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Vitamin D receptor

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Target not currently curated in GtoImmuPdb

Target id: 605

Nomenclature: Vitamin D receptor

Systematic Nomenclature: NR1I1

Family: 1I. Vitamin D receptor-like receptors

Contents:

Gene and Protein Information Click here for help
Species AA Chromosomal Location Gene Symbol Gene Name Reference
Human 427 12q13.11 VDR vitamin D receptor 1
Mouse 422 15 F1 Vdr vitamin D (1,25-dihydroxyvitamin D3) receptor 11
Rat 423 7q36 Vdr vitamin D receptor 4
Previous and Unofficial Names Click here for help
nuclear receptor subfamily 1 group I member 1 | vitamin D (1,25- dihydroxyvitamin D3) receptor | vitamin D (1 | vitamin D (1,25-dihydroxyvitamin D3) receptor
Database Links Click here for help
Alphafold P11473 (Hs), Q922X0 (Mm), P13053 (Rn)
CATH/Gene3D 3.30.50.10
ChEMBL Target CHEMBL1977 (Hs), CHEMBL3150 (Rn)
DrugBank Target P11473 (Hs)
Ensembl Gene ENSG00000111424 (Hs), ENSMUSG00000022479 (Mm), ENSRNOG00000054420 (Rn)
Entrez Gene 7421 (Hs), 22337 (Mm), 24873 (Rn)
Human Protein Atlas ENSG00000111424 (Hs)
KEGG Gene hsa:7421 (Hs), mmu:22337 (Mm), rno:24873 (Rn)
OMIM 601769 (Hs)
Orphanet ORPHA120464 (Hs)
Pharos P11473 (Hs)
RefSeq Nucleotide NM_000376 (Hs), NM_009504 (Mm), NM_017058 (Rn)
RefSeq Protein NP_000367 (Hs), NP_033530 (Mm), NP_058754 (Rn)
SynPHARM 6450 (in complex with 1,25-dihydroxyvitamin D3)
6446 (in complex with calcipotriol)
6447 (in complex with lexacalcitol)
6448 (in complex with seocalcitol)
UniProtKB P11473 (Hs), Q922X0 (Mm), P13053 (Rn)
Wikipedia VDR (Hs)
Selected 3D Structures Click here for help
Image of receptor 3D structure from RCSB PDB
Description:  Vitamin D Nuclear Receptor (ligand binding domain)
PDB Id:  1DB1
Ligand:  1,25-dihydroxyvitamin D3   This ligand is endogenous
Resolution:  1.8Å
Species:  Human
References:  17
Natural/Endogenous Ligands Click here for help
calcitriol-26,23-lactone
1,25-dihydroxyvitamin D3
3-keto-lithocholic acid
lithocholic acid

Download all structure-activity data for this target as a CSV file go icon to follow link

Agonists Click here for help
Key to terms and symbols View all chemical structures Click column headers to sort
Ligand Sp. Action Value Parameter Reference
lexacalcitol Small molecule or natural product Ligand has a PDB structure Hs Agonist 10.1 pKd 24
⤷ pKd 10.1 [24]
seocalcitol Small molecule or natural product Ligand has a PDB structure Hs Agonist 9.6 pKd 5,24
⤷ pKd 9.6 [5,24]
calcipotriol Small molecule or natural product Approved drug Primary target of this compound Ligand has a PDB structure Hs Agonist 9.3 pKd 2
⤷ pKd 9.3 [2]
inecalcitol Small molecule or natural product Primary target of this compound Hs Agonist 9.3 pKd 22
⤷ pKd 9.3 (Kd 5.3x10-10 M) [22]
1,25-dihydroxyvitamin D3 Small molecule or natural product Approved drug Primary target of this compound Ligand is endogenous in the given species Ligand has a PDB structure Hs Agonist 8.9 – 9.2 pKd 2,6
⤷ pKd 8.9 – 9.2 [2,6]
falecalcitriol Small molecule or natural product Ggal Agonist 8.8 pKd 10
⤷ pKd 8.8 [10]
tacalcitol Small molecule or natural product Hs Agonist 8.5 pKd 2
⤷ pKd 8.5 [2]
gemini Small molecule or natural product ? Agonist 8.5 pKd 23
⤷ pKd 8.5 [23]
eldecalcitol Small molecule or natural product Approved drug Ligand has a PDB structure Rn Agonist 8.0 pKd 15
⤷ pKd 8.0 [15]
calcitriol-26,23-lactone Small molecule or natural product Ligand is endogenous in the given species Hs Agonist 7.5 pKd 20
⤷ pKd 7.5 [20]
LG190178 Small molecule or natural product Hs Agonist 6.8 pKi 3
⤷ pKi 6.8 [3]
3-keto-lithocholic acid Small molecule or natural product Click here for species-specific activity table Ligand is endogenous in the given species Ligand has a PDB structure Hs Agonist 6.5 pKi 14
⤷ pKi 6.5 [14]
lithocholic acid Small molecule or natural product Click here for species-specific activity table Ligand is endogenous in the given species Ligand has a PDB structure Hs Agonist 5.1 pKi 14
⤷ pKi 5.1 [14]
2MD Small molecule or natural product Ligand has a PDB structure Hs Agonist 10.0 pEC50 21
⤷ pEC50 10.0 [21]
maxacalcitol Small molecule or natural product Ligand has a PDB structure Rn Agonist 8.2 pEC50 19
⤷ pEC50 8.2 [19]
elocalcitol Small molecule or natural product Rn Agonist 8.2 pIC50 16
⤷ pIC50 8.2 [16]
doxercalciferol Small molecule or natural product Approved drug Ligand has a PDB structure Hs Agonist - -
⤷
paricalcitol Small molecule or natural product Approved drug Primary target of this compound Hs Agonist - -
⤷
View species-specific agonist tables
Antagonists Click here for help
Key to terms and symbols View all chemical structures Click column headers to sort
Ligand Sp. Action Value Parameter Reference
TEI-9647 Small molecule or natural product Ggal Antagonist 8.2 pIC50 18
⤷ pIC50 8.2 (IC50 6.3x10-9 M) [18]
ZK159222 Small molecule or natural product Hs Antagonist 7.5 pIC50 7-8
⤷ pIC50 7.5 (IC50 2.9x10-8 M) [7-8]
View species-specific antagonist tables
DNA Binding Click here for help
Structure:  Heterodimer, RXR partner
HRE core sequence: 
Response element:  DR3
Co-binding Partners Click here for help
Name Interaction Effect Reference
RXR Physical, Functional DNA binding 12
Physiological Consequences of Altering Gene Expression Click here for help
Vitamin D receptor: Knock_out mice
Species:  Mouse
Tissue: 
Technique:  Knock-out
References:  13,25-26
Physiological Consequences of Altering Gene Expression Comments
Typical rachitic features such ashypocalcemia, hyperparathyroidism, impaired bone formation, uterine hypoplasia, growth retardation and alopecia after weaning [13,25]. Impaired insulin secretory capacity [26].
Phenotypes, Alleles and Disease Models Click here for help Mouse data from MGI

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Allele Composition & genetic background Accession Phenotype Id Phenotype Reference
Vdrtm1Ska Vdrtm1Ska/Vdrtm1Ska
involves: C57BL/6 * CBA		 MGI:103076  MP:0009642 abnormal blood homeostasis PMID: 11697802 
Vdrtm1Ska Vdrtm1Ska/Vdrtm1Ska
involves: C57BL/6 * CBA		 MGI:103076  MP:0002896 abnormal bone mineralization PMID: 11697802 
Vdrtm1Mbd Vdrtm1Mbd/Vdrtm1Mbd
involves: 129S4/SvJae		 MGI:103076  MP:0002896 abnormal bone mineralization PMID: 9275211 
Vdrtm1.1Gcm Vdrtm1.1Gcm/Vdrtm1.1Gcm
involves: 129S1/Sv * 129X1/SvJ		 MGI:103076  MP:0002896 abnormal bone mineralization PMID: 14584880 
Vdrtm1Ska Vdrtm1Ska/Vdrtm1Ska
involves: C57BL/6 * CBA		 MGI:103076  MP:0003795 abnormal bone structure PMID: 9241280 
Vdrtm1Ska Vdrtm1Ska/Vdrtm1Ska
involves: C57BL/6 * CBA		 MGI:103076  MP:0000130 abnormal cancellous bone morphology PMID: 9241280 
Tg(Col2a1-cre)1Bhr|Vdrtm1Gcm Tg(Col2a1-cre)1Bhr/?,Vdrtm1Gcm/Vdrtm1Gcm
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL		 MGI:103076  MGI:2176069  MP:0000130 abnormal cancellous bone morphology PMID: 17099775 
Il10tm1Cgn|Vdrtm1Mbd Il10tm1Cgn/Il10tm1Cgn,Vdrtm1Mbd/Vdrtm1Mbd
involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6		 MGI:103076  MGI:96537  MP:0005463 abnormal CD4-positive T cell physiology PMID: 16476050 
Vdrtm1Ska Vdrtm1Ska/Vdrtm1Ska
NOD.Cg-Vdr/CmatJ		 MGI:103076  MP:0008722 abnormal chemokine secretion PMID: 17959935 
Vdrtm1Mbd Vdrtm1Mbd/Vdrtm1Mbd
involves: 129S4/SvJae * C57BL/6J		 MGI:103076  MP:0000166 abnormal chondrocyte morphology PMID: 15976027 
Vdrtm1Ska Vdrtm1Ska/Vdrtm1Ska
involves: C57BL/6 * CBA		 MGI:103076  MP:0000367 abnormal coat/ hair morphology PMID: 11851870 
Vdrtm1Ska Vdrtm1Ska/Vdrtm1Ska
involves: C57BL/6 * CBA		 MGI:103076  MP:0000495 abnormal colon morphology PMID: 11532865 
Il10tm1Cgn|Vdrtm1Mbd Il10tm1Cgn/Il10tm1Cgn,Vdrtm1Mbd/Vdrtm1Mbd
involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6		 MGI:103076  MGI:96537  MP:0008713 abnormal cytokine level PMID: 16476050 
Vdrtm1Ska Vdrtm1Ska/Vdrtm1Ska
NOD.Cg-Vdr/CmatJ		 MGI:103076  MP:0008115 abnormal dendritic cell differentiation PMID: 17959935 
Vdrtm1Mbd Vdrtm1Mbd/Vdrtm1Mbd
involves: 129S4/SvJae * C57BL/6		 MGI:103076  MP:0005584 abnormal enzyme/coenzyme activity PMID: 17275288 
Vdrtm1Ska Vdrtm1Ska/Vdrtm1Ska
involves: C57BL/6 * CBA		 MGI:103076  MP:0001239 abnormal epidermis stratum granulosum morphology PMID: 11851870 
Vdrtm1Ska Vdrtm1Ska/Vdrtm1Ska
involves: C57BL/6 * CBA		 MGI:103076  MP:0001927 abnormal estrous cycle PMID: 10746634 
Vdrtm1Ska Vdrtm1Ska/Vdrtm1Ska
involves: C57BL/6 * CBA		 MGI:103076  MP:0003743 abnormal facial morphology PMID: 9241280 
Vdrtm1Ska Vdrtm1Ska/Vdrtm1Ska
involves: C57BL/6 * CBA		 MGI:103076  MP:0005401 abnormal fat-soluble vitamin level PMID: 11532865  11697802  9241280 
Vdrtm1Tyam Vdrtm1Tyam/Vdrtm1Tyam
involves: C57BL/6 * CBA		 MGI:103076  MP:0005401 abnormal fat-soluble vitamin level PMID: 15998839 
Vdrtm1.1Gcm Vdrtm1.1Gcm/Vdrtm1.1Gcm
involves: 129 * BALB/c * C57BL/6 * Swiss		 MGI:103076  MP:0005401 abnormal fat-soluble vitamin level PMID: 11687634 
Tg(Col2a1-cre)1Bhr|Vdrtm1Gcm Tg(Col2a1-cre)1Bhr/?,Vdrtm1Gcm/Vdrtm1Gcm
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL		 MGI:103076  MGI:2176069  MP:0005401 abnormal fat-soluble vitamin level PMID: 17099775 
Vdrtm1Rge Vdrtm1Rge/Vdrtm1Rge
involves: 129S1/Sv * 129X1/SvJ		 MGI:103076  MP:0005401 abnormal fat-soluble vitamin level PMID: 12089348 
Vdrtm1Ska Vdrtm1Ska/Vdrtm1Ska
involves: C57BL/6 * CBA		 MGI:103076  MP:0001119 abnormal female reproductive system morphology PMID: 9241280 
Vdrtm1Tyam Vdrtm1Tyam/Vdrtm1Tyam
involves: C57BL/6 * CBA		 MGI:103076  MP:0000559 abnormal femur morphology PMID: 15998839 
Vdrtm1Ska Vdrtm1Ska/Vdrtm1Ska
involves: C57BL/6 * CBA		 MGI:103076  MP:0002161 abnormal fertility/fecundity PMID: 9241280 
Vdrtm1Ska Vdrtm1Ska/Vdrtm1Ska
involves: C57BL/6 * CBA		 MGI:103076  MP:0002187 abnormal fibula morphology PMID: 9241280 
Vdrtm1Ska Vdrtm1Ska/Vdrtm1Ska
involves: C57BL/6 * CBA		 MGI:103076  MP:0001929 abnormal gametogenesis PMID: 10746634 
Vdrtm1Ska Vdrtm1Ska/Vdrtm1Ska
NOD.Cg-Vdr/CmatJ		 MGI:103076  MP:0005291 abnormal glucose tolerance PMID: 17959935 
Vdrtm1Ska Vdrtm1Ska/Vdrtm1Ska
involves: C57BL/6 * CBA		 MGI:103076  MP:0003704 abnormal hair follicle development PMID: 11851870 
Vdrtm1Ska Vdrtm1Ska/Vdrtm1Ska
involves: C57BL/6 * CBA		 MGI:103076  MP:0000377 abnormal hair follicle morphology PMID: 11851870 
Vdrtm1Mbd Vdrtm1Mbd/Vdrtm1Mbd
involves: 129S4/SvJae		 MGI:103076  MP:0000377 abnormal hair follicle morphology PMID: 9275211 
Vdrtm1Ska Vdrtm1Ska/Vdrtm1Ska
NOD.Cg-Vdr/CmatJ		 MGI:103076  MP:0008650 abnormal interleukin-1 secretion PMID: 17959935 
Vdrtm1Mbd Vdrtm1Mbd/Vdrtm1Mbd
involves: 129S4/SvJae * C57BL/6		 MGI:103076  MP:0008751 abnormal interleukin level PMID: 16476050 
Vdrtm1Mbd Vdrtm1Mbd/Vdrtm1Mbd
involves: 129S4/SvJae * C57BL/6		 MGI:103076  MP:0000488 abnormal intestinal epithelium morphology PMID: 17962355 
Vdrtm1Mbd Vdrtm1Mbd/Vdrtm1Mbd
involves: 129S4/SvJae * C57BL/6		 MGI:103076  MP:0000511 abnormal intestinal mucosa morphology PMID: 17962355 
Vdrtm1Ska Vdrtm1Ska/Vdrtm1Ska
involves: C57BL/6 * CBA		 MGI:103076  MP:0004842 abnormal large intestine crypts of Lieberkuhn morphology PMID: 11532865 
Vdrtm1Mbd Vdrtm1Mbd/Vdrtm1Mbd
involves: 129S4/SvJae * C57BL/6		 MGI:103076  MP:0004842 abnormal large intestine crypts of Lieberkuhn morphology PMID: 17962355 
Vdrtm1Ska Vdrtm1Ska/Vdrtm1Ska
involves: 129/Sv * C57BL/6 * CBA		 MGI:103076  MP:0003313 abnormal locomotor activation PMID: 15639181 
Vdrtm1Ska Vdrtm1Ska/Vdrtm1Ska
involves: C57BL/6 * CBA		 MGI:103076  MP:0000165 abnormal long bone hypertrophic chondrocyte zone PMID: 9241280 
Vdrtm1Ska Vdrtm1Ska/Vdrtm1Ska
involves: C57BL/6 * CBA		 MGI:103076  MP:0000133 abnormal long bone metaphysis morphology PMID: 9241280 
Il10tm1Cgn|Vdrtm1Mbd Il10tm1Cgn/Il10tm1Cgn,Vdrtm1Mbd/Vdrtm1Mbd
involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6		 MGI:103076  MGI:96537  MP:0008828 abnormal lymph node cell ratio PMID: 16476050 
Vdrtm1Rge Vdrtm1Rge/Vdrtm1Rge
involves: 129S1/Sv * 129X1/SvJ * C57BL/6		 MGI:103076  MP:0002451 abnormal macrophage physiology PMID: 17551101 
Vdrtm1Ska Vdrtm1Ska/Vdrtm1Ska
involves: C57BL/6 * CBA		 MGI:103076  MP:0005495 abnormal macrophage recruitment PMID: 11697802 
Vdrtm1Ska Vdrtm1Ska/Vdrtm1Ska
involves: C57BL/6 * CBA		 MGI:103076  MP:0001145 abnormal male reproductive system morphology PMID: 10746634 
Vdrtm1Ska Vdrtm1Ska/Vdrtm1Ska
involves: C57BL/6 * CBA		 MGI:103076  MP:0001670 abnormal mineral absorption PMID: 11687634 
Vdrtm1.1Gcm Vdrtm1.1Gcm/Vdrtm1.1Gcm
involves: 129 * BALB/c * C57BL/6 * Swiss		 MGI:103076  MP:0001670 abnormal mineral absorption PMID: 11687634 
Vdrtm1Mbd Vdrtm1Mbd/Vdrtm1Mbd
involves: 129S4/SvJae * C57BL/6J		 MGI:103076  MP:0005636 abnormal mineral homeostasis PMID: 15976027 
Tg(Col2a1-cre)1Bhr|Vdrtm1Gcm Tg(Col2a1-cre)1Bhr/?,Vdrtm1Gcm/Vdrtm1Gcm
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL		 MGI:103076  MGI:2176069  MP:0005636 abnormal mineral homeostasis PMID: 17099775 
Vdrtm1Mbd Vdrtm1Mbd/Vdrtm1Mbd
involves: 129S4/SvJae * C57BL/6		 MGI:103076  MP:0004215 abnormal myocardial fiber physiology PMID: 17974622 
Vdrtm1Rge Vdrtm1Rge/Vdrtm1Rge
involves: 129S1/Sv * 129X1/SvJ * C57BL/6		 MGI:103076  MP:0003957 abnormal nitric oxide homeostasis PMID: 17551101 
Vdrtm1Ska Vdrtm1Ska/Vdrtm1Ska
involves: C57BL/6 * CBA		 MGI:103076  MP:0000057 abnormal osteogenesis PMID: 9241280 
Vdrtm1Mbd Vdrtm1Mbd/Vdrtm1Mbd
involves: 129S4/SvJae * C57BL/6		 MGI:103076  MP:0005581 abnormal renin activity PMID: 17275289 
Vdrtm1Ska Vdrtm1Ska/Vdrtm1Ska
involves: 129/Sv * C57BL/6 * CBA		 MGI:103076  MP:0001413 abnormal response to new environment PMID: 15639181 
Vdrtm1Rge Vdrtm1Rge/Vdrtm1Rge
involves: 129S1/Sv * 129X1/SvJ		 MGI:103076  MP:0003639 abnormal response to vitamins PMID: 12089348 
Vdrtm1Ska Vdrtm1Ska/Vdrtm1Ska
involves: C57BL/6 * CBA		 MGI:103076  MP:0002115 abnormal skeleton extremities morphology PMID: 9241280 
Vdrtm1Ska Vdrtm1Ska/Vdrtm1Ska
involves: C57BL/6 * CBA		 MGI:103076  MP:0003941 abnormal skin development PMID: 11851870 
Vdrtm1Ska Vdrtm1Ska/Vdrtm1Ska
involves: C57BL/6 * CBA		 MGI:103076  MP:0001156 abnormal spermatogenesis PMID: 10746634 
Il10tm1Cgn|Vdrtm1Mbd Il10tm1Cgn/Il10tm1Cgn,Vdrtm1Mbd/Vdrtm1Mbd
involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6		 MGI:103076  MGI:96537  MP:0008826 abnormal splenic cell ratio PMID: 16476050 
Vdrtm1Ska Vdrtm1Ska/Vdrtm1Ska
involves: 129/Sv * C57BL/6 * CBA		 MGI:103076  MP:0001486 abnormal startle reflex PMID: 15639181 
Vdrtm1Ska Vdrtm1Ska/Vdrtm1Ska
NOD.Cg-Vdr/CmatJ		 MGI:103076  MP:0006387 abnormal T cell number PMID: 17959935 
Il10tm1Cgn|Vdrtm1Mbd Il10tm1Cgn/Il10tm1Cgn,Vdrtm1Mbd/Vdrtm1Mbd
involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6		 MGI:103076  MGI:96537  MP:0009543 abnormal thymus corticomedullary boundary morphology PMID: 16476050 
Il10tm1Cgn|Vdrtm1Mbd Il10tm1Cgn/Il10tm1Cgn,Vdrtm1Mbd/Vdrtm1Mbd
involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6		 MGI:103076  MGI:96537  MP:0001824 abnormal thymus involution PMID: 16476050 
Vdrtm1Ska Vdrtm1Ska/Vdrtm1Ska
involves: C57BL/6 * CBA		 MGI:103076  MP:0000558 abnormal tibia morphology PMID: 9241280 
Vdrtm1Mbd Vdrtm1Mbd/Vdrtm1Mbd
involves: 129S4/SvJae		 MGI:103076  MP:0000558 abnormal tibia morphology PMID: 9275211 
Vdrtm1Mbd Vdrtm1Mbd/Vdrtm1Mbd
involves: 129S4/SvJae * C57BL/6		 MGI:103076  MP:0008752 abnormal tumor necrosis factor level PMID: 16476050 
Vdrtm1.1Gcm Vdrtm1.1Gcm/Vdrtm1.1Gcm
involves: 129S1/Sv * 129X1/SvJ		 MGI:103076  MP:0009643 abnormal urine homeostasis PMID: 14584880 
Vdrtm1.1Gcm Vdrtm1.1Gcm/Vdrtm1.1Gcm
involves: 129S1/Sv * 129X1/SvJ		 MGI:103076  MP:0005400 abnormal vitamin level PMID: 14584880 
Vdrtm1Ska Vdrtm1Ska/Vdrtm1Ska
involves: C57BL/6 * CBA		 MGI:103076  MP:0001132 absent mature ovarian follicles PMID: 9241280 
Il10tm1Cgn|Vdrtm1Mbd Il10tm1Cgn/Il10tm1Cgn,Vdrtm1Mbd/Vdrtm1Mbd
involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6		 MGI:103076  MGI:96537  MP:0005046 absent spleen white pulp PMID: 16476050 
Vdrtm1Ska Vdrtm1Ska/Vdrtm1Ska
involves: C57BL/6 * CBA		 MGI:103076  MP:0000414 alopecia PMID: 11171393  11851870  9241280 
Vdrtm1Mbd Vdrtm1Mbd/Vdrtm1Mbd
involves: 129S4/SvJae		 MGI:103076  MP:0000414 alopecia PMID: 9275211 
Vdrtm1Ska Vdrtm1Ska/Vdrtm1Ska
involves: 129/Sv * C57BL/6 * CBA		 MGI:103076  MP:0000414 alopecia PMID: 15639181 
Vdrtm1Ska Vdrtm1Ska/Vdrtm1Ska
NOD.Cg-Vdr/CmatJ		 MGI:103076  MP:0000414 alopecia PMID: 17959935 
Vdrtm1Rge Vdrtm1Rge/Vdrtm1Rge
involves: 129S1/Sv * 129X1/SvJ		 MGI:103076  MP:0000414 alopecia PMID: 12089348 
Il10tm1Cgn|Vdrtm1Mbd Il10tm1Cgn/Il10tm1Cgn,Vdrtm1Mbd/Vdrtm1Mbd
involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6		 MGI:103076  MGI:96537  MP:0001577 anemia PMID: 16476050 
Vdrtm1Ska Vdrtm1Ska/Vdrtm1Ska
involves: C57BL/6 * CBA		 MGI:103076  MP:0002675 asthenozoospermia PMID: 10746634 
Vdrtm1Mbd Vdrtm1Mbd/Vdrtm1Mbd
involves: 129S4/SvJae * C57BL/6		 MGI:103076  MP:0003141 cardiac fibrosis PMID: 17275288 
Vdrtm1Mbd Vdrtm1Mbd/Vdrtm1Mbd
involves: 129S4/SvJae * C57BL/6		 MGI:103076  MP:0001625 cardiac hypertrophy PMID: 17275288 
Il10tm1Cgn|Vdrtm1Mbd Il10tm1Cgn/Il10tm1Cgn,Vdrtm1Mbd/Vdrtm1Mbd
involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6		 MGI:103076  MGI:96537  MP:0002816 colitis PMID: 16476050 
Tg(Col2a1-cre)1Bhr|Vdrtm1Gcm Tg(Col2a1-cre)1Bhr/?,Vdrtm1Gcm/Vdrtm1Gcm
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL		 MGI:103076  MGI:2176069  MP:0005602 decreased angiogenesis PMID: 17099775 
Vdrtm1Ska Vdrtm1Ska/Vdrtm1Ska
involves: 129/Sv * C57BL/6 * CBA		 MGI:103076  MP:0001265 decreased body size PMID: 15639181 
Vdrtm1Ska Vdrtm1Ska/Vdrtm1Ska
involves: C57BL/6 * CBA		 MGI:103076  MP:0001262 decreased body weight PMID: 11687634  9241280 
Vdrtm1Mbd Vdrtm1Mbd/Vdrtm1Mbd
involves: 129S4/SvJae		 MGI:103076  MP:0001262 decreased body weight PMID: 9275211 
Vdrtm1Tyam Vdrtm1Tyam/Vdrtm1Tyam
involves: C57BL/6 * CBA		 MGI:103076  MP:0001262 decreased body weight PMID: 15998839 
Vdrtm1.1Gcm Vdrtm1.1Gcm/Vdrtm1.1Gcm
involves: 129 * BALB/c * C57BL/6 * Swiss		 MGI:103076  MP:0001262 decreased body weight PMID: 11687634 
Vdrtm1.1Gcm Vdrtm1.1Gcm/Vdrtm1.1Gcm
involves: 129S1/Sv * 129X1/SvJ		 MGI:103076  MP:0000063 decreased bone density PMID: 14584880 
Vdrtm1.1Gcm Vdrtm1.1Gcm/Vdrtm1.1Gcm
involves: 129 * BALB/c * C57BL/6 * Swiss		 MGI:103076  MP:0000063 decreased bone density PMID: 11687634 
Vdrtm1Ska Vdrtm1Ska/Vdrtm1Ska
involves: C57BL/6 * CBA		 MGI:103076  MP:0010121 decreased bone mineral density PMID: 11687634  9241280 
Vdrtm1Tyam Vdrtm1Tyam/Vdrtm1Tyam
involves: C57BL/6 * CBA		 MGI:103076  MP:0010121 decreased bone mineral density PMID: 15998839 
Vdrtm1Ska Vdrtm1Ska/Vdrtm1Ska
NOD.Cg-Vdr/CmatJ		 MGI:103076  MP:0010121 decreased bone mineral density PMID: 17959935 
Vdrtm1Rge Vdrtm1Rge/Vdrtm1Rge
B6.129-Vdr		 MGI:103076  MP:0010121 decreased bone mineral density PMID: 17123805 
Vdrtm1Ska Vdrtm1Ska/Vdrtm1Ska
involves: C57BL/6 * CBA		 MGI:103076  MP:0000135 decreased cortical bone thickness PMID: 9241280 
Vdrtm1Ska Vdrtm1Ska/Vdrtm1Ska
NOD.Cg-Vdr/CmatJ		 MGI:103076  MP:0008706 decreased interleukin-6 secretion PMID: 17959935 
Il10tm1Cgn|Vdrtm1Mbd Il10tm1Cgn/Il10tm1Cgn,Vdrtm1Mbd/Vdrtm1Mbd
involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6		 MGI:103076  MGI:96537  MP:0005016 decreased lymphocyte cell number PMID: 16476050 
Tg(Col2a1-cre)1Bhr|Vdrtm1Gcm Tg(Col2a1-cre)1Bhr/?,Vdrtm1Gcm/Vdrtm1Gcm
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL		 MGI:103076  MGI:2176069  MP:0004985 decreased osteoclast cell number PMID: 17099775 
Vdrtm1Ska Vdrtm1Ska/Vdrtm1Ska
involves: 129/Sv * C57BL/6 * CBA		 MGI:103076  MP:0009142 decreased prepulse inhibition PMID: 15639181 
Vdrtm1Ska Vdrtm1Ska/Vdrtm1Ska
NOD.Cg-Vdr/CmatJ		 MGI:103076  MP:0004974 decreased regulatory T cell number PMID: 17959935 
Vdrtm1Ska Vdrtm1Ska/Vdrtm1Ska
involves: C57BL/6 * CBA		 MGI:103076  MP:0009335 decreased splenocyte proliferation PMID: 11697802 
Vdrtm1Ska Vdrtm1Ska/Vdrtm1Ska
involves: C57BL/6 * CBA		 MGI:103076  MP:0004804 decreased susceptibility to autoimmune diabetes PMID: 11697802 
Vdrtm1Rge Vdrtm1Rge/Vdrtm1Rge
involves: 129S1/Sv * 129X1/SvJ * C57BL/6		 MGI:103076  MP:0005026 decreased susceptibility to parasitic infection PMID: 17551101 
Vdrtm1Mbd Vdrtm1Mbd/Vdrtm1Mbd
involves: 129S4/SvJae * C57BL/6		 MGI:103076  MP:0006264 decreased systemic arterial systolic blood pressure PMID: 17275289 
Il10tm1Cgn|Vdrtm1Mbd Il10tm1Cgn/Il10tm1Cgn,Vdrtm1Mbd/Vdrtm1Mbd
involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6		 MGI:103076  MGI:96537  MP:0005095 decreased T cell proliferation PMID: 16476050 
Vdrtm1.1Gcm Vdrtm1.1Gcm/Vdrtm1.1Gcm
involves: 129S1/Sv * 129X1/SvJ		 MGI:103076  MP:0004905 decreased uterus weight PMID: 14584880 
Vdrtm1Ska Vdrtm1Ska/Vdrtm1Ska
involves: 129/Sv * C57BL/6 * CBA		 MGI:103076  MP:0002757 decreased vertical activity PMID: 15639181 
Tg(Col2a1-cre)1Bhr|Vdrtm1Gcm Tg(Col2a1-cre)1Bhr/?,Vdrtm1Gcm/Vdrtm1Gcm
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL		 MGI:103076  MGI:2176069  MP:0003419 delayed endochondral bone ossification PMID: 17099775 
Vdrtm1Ska Vdrtm1Ska/Vdrtm1Ska
involves: C57BL/6 * CBA		 MGI:103076  MP:0001247 dermal cysts PMID: 11851870 
Vdrtm1Mbd Vdrtm1Mbd/Vdrtm1Mbd
involves: 129S4/SvJae		 MGI:103076  MP:0001247 dermal cysts PMID: 9275211 
Vdrtm1Ska Vdrtm1Ska/Vdrtm1Ska
involves: C57BL/6 * CBA		 MGI:103076  MP:0001194 dermatitis PMID: 16880407 
Vdrtm1Ska Vdrtm1Ska/Vdrtm1Ska
involves: C57BL/6 * CBA		 MGI:103076  MP:0009257 dilated seminiferous tubules PMID: 10746634 
Vdrtm1Mbd Vdrtm1Mbd/Vdrtm1Mbd
involves: 129S4/SvJae		 MGI:103076  MP:0006397 disorganized long bone epiphyseal plate PMID: 9275211 
Vdrtm1Pcn Vdrtm1Pcn/Vdrtm1Pcn
Not Specified		 MGI:103076  MP:0001849 ear inflammation PMID: 16880407 
Il10tm1Cgn|Vdrtm1Mbd Il10tm1Cgn/Il10tm1Cgn,Vdrtm1Mbd/Vdrtm1Mbd
involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6		 MGI:103076  MGI:96537  MP:0008466 enlarged mesenteric lymph nodes PMID: 16476050 
Vdrtm1Mbd Vdrtm1Mbd/Vdrtm1Mbd
involves: 129S4/SvJae		 MGI:103076  MP:0003112 enlarged parathyroid gland PMID: 9275211 
Il10tm1Cgn|Vdrtm1Mbd Il10tm1Cgn/Il10tm1Cgn,Vdrtm1Mbd/Vdrtm1Mbd
involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6		 MGI:103076  MGI:96537  MP:0000691 enlarged spleen PMID: 16476050 
Fgf23tm1Blan|Vdrtm1Rge Fgf23tm1Blan/Fgf23tm1Blan,Vdrtm1Rge/Vdrtm1Rge
involves: 129/Sv * 129S1/Sv * 129X1/SvJ * C57BL/6		 MGI:103076  MGI:1891427  MP:0003414 epidermal cyst PMID: 17123805 
Vdrtm1Rge Vdrtm1Rge/Vdrtm1Rge
B6.129-Vdr		 MGI:103076  MP:0003414 epidermal cyst PMID: 17123805 
Vdrtm1Ska Vdrtm1Ska/Vdrtm1Ska
involves: C57BL/6 * CBA		 MGI:103076  MP:0001926 female infertility PMID: 11385068  9241280 
Vdrtm1Rge Vdrtm1Rge/Vdrtm1Rge
involves: 129S1/Sv * 129X1/SvJ		 MGI:103076  MP:0005441 hypercalciuria PMID: 12089348 
Tg(Col2a1-cre)1Bhr|Vdrtm1Gcm Tg(Col2a1-cre)1Bhr/?,Vdrtm1Gcm/Vdrtm1Gcm
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL		 MGI:103076  MGI:2176069  MP:0001566 hyperphosphatemia PMID: 17099775 
Vdrtm1Mbd Vdrtm1Mbd/Vdrtm1Mbd
involves: 129S4/SvJae		 MGI:103076  MP:0000231 hypertension PMID: 12122115 
Vdrtm1Ska Vdrtm1Ska/Vdrtm1Ska
involves: 129/Sv * C57BL/6 * CBA		 MGI:103076  MP:0001402 hypoactivity PMID: 15639181 
Vdrtm1Ska Vdrtm1Ska/Vdrtm1Ska
involves: C57BL/6 * CBA		 MGI:103076  MP:0000195 hypocalcemia PMID: 10746634  11385068  11532865  11687634  11697802  9241280 
Vdrtm1Mbd Vdrtm1Mbd/Vdrtm1Mbd
involves: 129S4/SvJae		 MGI:103076  MP:0000195 hypocalcemia PMID: 12122115  9275211 
Vdrtm1.1Gcm Vdrtm1.1Gcm/Vdrtm1.1Gcm
involves: 129S1/Sv * 129X1/SvJ		 MGI:103076  MP:0000195 hypocalcemia PMID: 14584880 
Vdrtm1Tyam Vdrtm1Tyam/Vdrtm1Tyam
involves: C57BL/6 * CBA		 MGI:103076  MP:0000195 hypocalcemia PMID: 15998839 
Vdrtm1Ska Vdrtm1Ska/Vdrtm1Ska
NOD.Cg-Vdr/CmatJ		 MGI:103076  MP:0000195 hypocalcemia PMID: 17959935 
Vdrtm1.1Gcm Vdrtm1.1Gcm/Vdrtm1.1Gcm
involves: 129 * BALB/c * C57BL/6 * Swiss		 MGI:103076  MP:0000195 hypocalcemia PMID: 11687634 
Vdrtm1Rge Vdrtm1Rge/Vdrtm1Rge
involves: 129S1/Sv * 129X1/SvJ		 MGI:103076  MP:0000195 hypocalcemia PMID: 12089348 
Vdrtm1Ska Vdrtm1Ska/Vdrtm1Ska
involves: C57BL/6 * CBA		 MGI:103076  MP:0000198 hypophosphatemia PMID: 9241280 
Vdrtm1Tyam Vdrtm1Tyam/Vdrtm1Tyam
involves: C57BL/6 * CBA		 MGI:103076  MP:0000198 hypophosphatemia PMID: 15998839 
Vdrtm1Mbd Vdrtm1Mbd/Vdrtm1Mbd
involves: 129S4/SvJae * C57BL/6J		 MGI:103076  MP:0000198 hypophosphatemia PMID: 15976027 
Vdrtm1Rge Vdrtm1Rge/Vdrtm1Rge
B6.129-Vdr		 MGI:103076  MP:0000198 hypophosphatemia PMID: 17123805 
Vdrtm1Ska Vdrtm1Ska/Vdrtm1Ska
involves: 129/Sv * C57BL/6 * CBA		 MGI:103076  MP:0001405 impaired coordination PMID: 15639181 
Vdrtm1Rge Vdrtm1Rge/Vdrtm1Rge
involves: 129S1/Sv * 129X1/SvJ		 MGI:103076  MP:0003432 increased activity of parathyroid PMID: 12089348 
Vdrtm1Ska Vdrtm1Ska/Vdrtm1Ska
involves: C57BL/6 * CBA		 MGI:103076  MP:0002968 increased circulating alkaline phosphatase level PMID: 9241280 
Fgf23tm1Blan|Vdrtm1Rge Fgf23tm1Blan/Fgf23tm1Blan,Vdrtm1Rge/Vdrtm1Rge
involves: 129/Sv * 129S1/Sv * 129X1/SvJ * C57BL/6		 MGI:103076  MGI:1891427  MP:0002968 increased circulating alkaline phosphatase level PMID: 17123805 
Vdrtm1Rge Vdrtm1Rge/Vdrtm1Rge
B6.129-Vdr		 MGI:103076  MP:0002968 increased circulating alkaline phosphatase level PMID: 17123805 
Vdrtm1Mbd Vdrtm1Mbd/Vdrtm1Mbd
involves: 129S4/SvJae		 MGI:103076  MP:0006375 increased circulating angiotensinogen level PMID: 12122115 
Vdrtm1Ska Vdrtm1Ska/Vdrtm1Ska
involves: C57BL/6 * CBA		 MGI:103076  MP:0001750 increased circulating follicle stimulating hormone level PMID: 10746634 
Vdrtm1Ska Vdrtm1Ska/Vdrtm1Ska
involves: C57BL/6 * CBA		 MGI:103076  MP:0001751 increased circulating luteinizing hormone level PMID: 10746634 
Vdrtm1Mbd Vdrtm1Mbd/Vdrtm1Mbd
involves: 129S4/SvJae		 MGI:103076  MP:0002904 increased circulating parathyroid hormone level PMID: 10910362  12122115  9275211 
Vdrtm1Tyam Vdrtm1Tyam/Vdrtm1Tyam
involves: C57BL/6 * CBA		 MGI:103076  MP:0002904 increased circulating parathyroid hormone level PMID: 15998839 
Vdrtm1.1Gcm Vdrtm1.1Gcm/Vdrtm1.1Gcm
involves: 129 * BALB/c * C57BL/6 * Swiss		 MGI:103076  MP:0002904 increased circulating parathyroid hormone level PMID: 11687634 
Vdrtm1Rge Vdrtm1Rge/Vdrtm1Rge
involves: 129S1/Sv * 129X1/SvJ		 MGI:103076  MP:0002904 increased circulating parathyroid hormone level PMID: 12089348 
Fgf23tm1Blan|Vdrtm1Rge Fgf23tm1Blan/Fgf23tm1Blan,Vdrtm1Rge/Vdrtm1Rge
involves: 129/Sv * 129S1/Sv * 129X1/SvJ * C57BL/6		 MGI:103076  MGI:1891427  MP:0002904 increased circulating parathyroid hormone level PMID: 17123805 
Vdrtm1Rge Vdrtm1Rge/Vdrtm1Rge
B6.129-Vdr		 MGI:103076  MP:0002904 increased circulating parathyroid hormone level PMID: 17123805 
Vdrtm1Mbd Vdrtm1Mbd/Vdrtm1Mbd
involves: 129S4/SvJae		 MGI:103076  MP:0003352 increased circulating renin level PMID: 12122115 
Vdrtm1Mbd Vdrtm1Mbd/Vdrtm1Mbd
involves: 129S4/SvJae		 MGI:103076  MP:0003911 increased drinking behavior PMID: 12122115 
Vdrtm1Mbd Vdrtm1Mbd/Vdrtm1Mbd
involves: 129S4/SvJae		 MGI:103076  MP:0002833 increased heart weight PMID: 12122115 
Vdrtm1Mbd Vdrtm1Mbd/Vdrtm1Mbd
involves: 129S4/SvJae * C57BL/6		 MGI:103076  MP:0002833 increased heart weight PMID: 17275288  17275289 
Vdr+|Vdrtm1Mbd Vdrtm1Mbd/Vdr+
involves: 129S4/SvJae * C57BL/6		 MGI:103076  MP:0002833 increased heart weight PMID: 17275289 
Vdrtm1Ska Vdrtm1Ska/Vdrtm1Ska
involves: C57BL/6 * CBA		 MGI:103076  MP:0006398 increased long bone epiphyseal plate size PMID: 9241280 
Vdrtm1Ska Vdrtm1Ska/Vdrtm1Ska
NOD.Cg-Vdr/CmatJ		 MGI:103076  MP:0006398 increased long bone epiphyseal plate size PMID: 17959935 
Il10tm1Cgn|Vdrtm1Mbd Il10tm1Cgn/Il10tm1Cgn,Vdrtm1Mbd/Vdrtm1Mbd
involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6		 MGI:103076  MGI:96537  MP:0005425 increased macrophage cell number PMID: 16476050 
Il10tm1Cgn|Vdrtm1Mbd Il10tm1Cgn/Il10tm1Cgn,Vdrtm1Mbd/Vdrtm1Mbd
involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6		 MGI:103076  MGI:96537  MP:0000219 increased neutrophil cell number PMID: 16476050 
Vdrtm1Ska Vdrtm1Ska/Vdrtm1Ska
involves: C57BL/6 * CBA		 MGI:103076  MP:0004988 increased osteoblast cell number PMID: 9241280 
Vdrtm1Mbd Vdrtm1Mbd/Vdrtm1Mbd
involves: 129S4/SvJae		 MGI:103076  MP:0005582 increased renin activity PMID: 12122115 
Vdrtm1Mbd Vdrtm1Mbd/Vdrtm1Mbd
involves: 129S4/SvJae * C57BL/6		 MGI:103076  MP:0009766 increased sensitivity to xenobiotic induced morbidity/mortality PMID: 17962355 
Il10tm1Cgn|Vdrtm1Mbd Il10tm1Cgn/Il10tm1Cgn,Vdrtm1Mbd/Vdrtm1Mbd
involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6		 MGI:103076  MGI:96537  MP:0008476 increased spleen red pulp amount PMID: 16476050 
Vdrtm1Ska Vdrtm1Ska/Vdrtm1Ska
NOD.Cg-Vdr/CmatJ		 MGI:103076  MP:0004803 increased susceptibility to autoimmune diabetes PMID: 17959935 
Vdrtm1Mbd Vdrtm1Mbd/Vdrtm1Mbd
involves: 129S4/SvJae * C57BL/6		 MGI:103076  MP:0008537 increased susceptibility to induced colitis PMID: 17962355 
Vdrtm1Mbd Vdrtm1Mbd/Vdrtm1Mbd
involves: 129S4/SvJae		 MGI:103076  MP:0006143 increased systemic arterial diastolic blood pressure PMID: 12122115 
Vdrtm1Mbd Vdrtm1Mbd/Vdrtm1Mbd
involves: 129S4/SvJae		 MGI:103076  MP:0006144 increased systemic arterial systolic blood pressure PMID: 12122115 
Il10tm1Cgn|Vdrtm1Mbd Il10tm1Cgn/Il10tm1Cgn,Vdrtm1Mbd/Vdrtm1Mbd
involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6		 MGI:103076  MGI:96537  MP:0006413 increased T cell apoptosis PMID: 16476050 
Vdrtm1Ska Vdrtm1Ska/Vdrtm1Ska
involves: C57BL/6 * CBA		 MGI:103076  MP:0004851 increased testis weight PMID: 10746634 
Vdrtm1Mbd Vdrtm1Mbd/Vdrtm1Mbd
involves: 129S4/SvJae * C57BL/6		 MGI:103076  MP:0004955 increased thymus weight PMID: 16476050 
Vdrtm1Mbd Vdrtm1Mbd/Vdrtm1Mbd
involves: 129S4/SvJae		 MGI:103076  MP:0006313 increased urine potassium level PMID: 12122115 
Vdrtm1Mbd Vdrtm1Mbd/Vdrtm1Mbd
involves: 129S4/SvJae		 MGI:103076  MP:0006316 increased urine sodium level PMID: 12122115 
Vdrtm1Mbd Vdrtm1Mbd/Vdrtm1Mbd
involves: 129S4/SvJae		 MGI:103076  MP:0003408 increased width of hypertrophic chondrocyte zone PMID: 9275211 
Vdrtm1Tyam Vdrtm1Tyam/Vdrtm1Tyam
involves: C57BL/6 * CBA		 MGI:103076  MP:0003408 increased width of hypertrophic chondrocyte zone PMID: 15998839 
Vdrtm1Mbd Vdrtm1Mbd/Vdrtm1Mbd
involves: 129S4/SvJae * C57BL/6J		 MGI:103076  MP:0003408 increased width of hypertrophic chondrocyte zone PMID: 15976027 
Vdrtm1Mbd Vdrtm1Mbd/Vdrtm1Mbd
involves: 129S4/SvJae * C57BL/6		 MGI:103076  MP:0001858 intestinal inflammation PMID: 16476050 
Il10tm1Cgn|Vdrtm1Mbd Il10tm1Cgn/Il10tm1Cgn,Vdrtm1Mbd/Vdrtm1Mbd
involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6		 MGI:103076  MGI:96537  MP:0001858 intestinal inflammation PMID: 16476050 
Vdrtm1Mbd Vdrtm1Mbd/Vdrtm1Mbd
involves: 129S4/SvJae * C57BL/6		 MGI:103076  MP:0000512 intestinal ulcer PMID: 17962355 
Vdrtm1Ska Vdrtm1Ska/Vdrtm1Ska
involves: C57BL/6 * CBA		 MGI:103076  MP:0001925 male infertility PMID: 11385068  9241280 
Vdrtm1Pcn Vdrtm1Pcn/Vdrtm1Pcn
Not Specified		 MGI:103076  MP:0001246 mixed cellular infiltration to dermis PMID: 16880407 
Vdrtm1Ska Vdrtm1Ska/Vdrtm1Ska
involves: C57BL/6 * CBA		 MGI:103076  MP:0002687 oligozoospermia PMID: 10746634 
Vdrtm1Mbd Vdrtm1Mbd/Vdrtm1Mbd
involves: 129S4/SvJae		 MGI:103076  MP:0001762 polyuria PMID: 12122115 
Vdrtm1Ska Vdrtm1Ska/Vdrtm1Ska
involves: C57BL/6 * CBA		 MGI:103076  MP:0001732 postnatal growth retardation PMID: 11851870  9241280 
Vdrtm1Mbd Vdrtm1Mbd/Vdrtm1Mbd
involves: 129S4/SvJae		 MGI:103076  MP:0001732 postnatal growth retardation PMID: 9275211 
Vdrtm1Tyam Vdrtm1Tyam/Vdrtm1Tyam
involves: C57BL/6 * CBA		 MGI:103076  MP:0001732 postnatal growth retardation PMID: 15998839 
Vdrtm1Ska Vdrtm1Ska/Vdrtm1Ska
NOD.Cg-Vdr/CmatJ		 MGI:103076  MP:0001732 postnatal growth retardation PMID: 17959935 
Vdrtm1Rge Vdrtm1Rge/Vdrtm1Rge
involves: 129S1/Sv * 129X1/SvJ		 MGI:103076  MP:0008489 postnatal slow weight gain PMID: 12089348 
Vdrtm1Ska Vdrtm1Ska/Vdrtm1Ska
involves: C57BL/6 * CBA		 MGI:103076  MP:0002083 premature death PMID: 11385068  9241280 
Il10tm1Cgn|Vdrtm1Mbd Il10tm1Cgn/Il10tm1Cgn,Vdrtm1Mbd/Vdrtm1Mbd
involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6		 MGI:103076  MGI:96537  MP:0000493 rectal prolapse PMID: 16476050 
Vdrtm1Ska Vdrtm1Ska/Vdrtm1Ska
involves: C57BL/6 * CBA		 MGI:103076  MP:0001923 reduced female fertility PMID: 11385068 
Vdrtm1Ska Vdrtm1Ska/Vdrtm1Ska
involves: C57BL/6 * CBA		 MGI:103076  MP:0001922 reduced male fertility PMID: 11385068 
Vdrtm1Ska Vdrtm1Ska/Vdrtm1Ska
involves: C57BL/6 * CBA		 MGI:103076  MP:0003116 rickets PMID: 11687634  11851870 
Vdrtm1Mbd Vdrtm1Mbd/Vdrtm1Mbd
involves: 129S4/SvJae		 MGI:103076  MP:0003116 rickets PMID: 9275211 
Vdrtm1.1Gcm Vdrtm1.1Gcm/Vdrtm1.1Gcm
involves: 129S1/Sv * 129X1/SvJ		 MGI:103076  MP:0003116 rickets PMID: 14584880 
Vdrtm1Mbd Vdrtm1Mbd/Vdrtm1Mbd
involves: 129S4/SvJae * C57BL/6J		 MGI:103076  MP:0003116 rickets PMID: 15976027 
Vdrtm1.1Gcm Vdrtm1.1Gcm/Vdrtm1.1Gcm
involves: 129 * BALB/c * C57BL/6 * Swiss		 MGI:103076  MP:0003116 rickets PMID: 11687634 
Vdrtm1Rge Vdrtm1Rge/Vdrtm1Rge
involves: 129S1/Sv * 129X1/SvJ		 MGI:103076  MP:0003116 rickets PMID: 12089348 
Vdrtm1Mbd Vdrtm1Mbd/Vdrtm1Mbd
involves: 129S4/SvJae		 MGI:103076  MP:0003109 short femur PMID: 9275211 
Vdrtm1Tyam Vdrtm1Tyam/Vdrtm1Tyam
involves: C57BL/6 * CBA		 MGI:103076  MP:0003109 short femur PMID: 15998839 
Vdrtm1Ska Vdrtm1Ska/Vdrtm1Ska
involves: C57BL/6 * CBA		 MGI:103076  MP:0000445 short snout PMID: 9241280 
Vdrtm1Ska Vdrtm1Ska/Vdrtm1Ska
involves: 129/Sv * C57BL/6 * CBA		 MGI:103076  MP:0001407 short stride length PMID: 15639181 
Vdrtm1Mbd Vdrtm1Mbd/Vdrtm1Mbd
involves: 129S4/SvJae		 MGI:103076  MP:0002764 short tibia PMID: 9275211 
Vdrtm1Ska Vdrtm1Ska/Vdrtm1Ska
involves: C57BL/6 * CBA		 MGI:103076  MP:0001283 sparse vibrissae PMID: 9241280 
Vdrtm1Mbd Vdrtm1Mbd/Vdrtm1Mbd
involves: 129S4/SvJae * C57BL/6		 MGI:103076  MP:0000708 thymus hyperplasia PMID: 16476050 
Il10tm1Cgn|Vdrtm1Mbd Il10tm1Cgn/Il10tm1Cgn,Vdrtm1Mbd/Vdrtm1Mbd
involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6		 MGI:103076  MGI:96537  MP:0001823 thymus hypoplasia PMID: 16476050 
Vdrtm1Ska Vdrtm1Ska/Vdrtm1Ska
involves: C57BL/6 * CBA		 MGI:103076  MP:0001121 uterus hypoplasia PMID: 9241280 
Vdrtm1Mbd Vdrtm1Mbd/Vdrtm1Mbd
involves: 129S4/SvJae * C57BL/6		 MGI:103076  MP:0001263 weight loss PMID: 17962355 
Clinically-Relevant Mutations and Pathophysiology Click here for help
Disease:  Mycobacterium tuberculosis, susceptibility to
Disease Ontology: DOID:399
OMIM: 607948
Disease:  Vitamin D-dependent rickets, type 2A
Synonyms: Hypocalcemic vitamin D-resistant rickets [Orphanet: ORPHA93160]
Rickets [Disease Ontology: DOID:10609]
Disease Ontology: DOID:10609
OMIM: 277440
Orphanet: ORPHA93160
Gene Expression and Pathophysiology Click here for help
Dysfunction of VDR in gene regulation through ligand and DNA bindings
Tissue or cell type: 
Pathophysiology:  vitamin D-dependent rickets type II
Species:  Human
Technique: 
References:  9

References

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1. Baker AR, McDonnell DP, Hughes M, Crisp TM, Mangelsdorf DJ, Haussler MR, Pike JW, Shine J, O'Malley BW. (1988) Cloning and expression of full-length cDNA encoding human vitamin D receptor. Proc Natl Acad Sci USA, 85 (10): 3294-8. [PMID:2835767]

2. Bishop JE, Collins ED, Okamura WH, Norman AW. (1994) Profile of ligand specificity of the vitamin D binding protein for 1 alpha,25-dihydroxyvitamin D3 and its analogs. J Bone Miner Res, 9 (8): 1277-88. [PMID:7976510]

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4. Burmester JK, Maeda N, DeLuca HF. (1988) Isolation and expression of rat 1,25-dihydroxyvitamin D3 receptor cDNA. Proc Natl Acad Sci USA, 85 (4): 1005-9. [PMID:2829212]

5. Colston KW, Mackay AG, James SY, Binderup L, Chander S, Coombes RC. (1992) EB1089: a new vitamin D analogue that inhibits the growth of breast cancer cells in vivo and in vitro. Biochem Pharmacol, 44 (12): 2273-80. [PMID:1472092]

6. Erben RG, Soegiarto DW, Weber K, Zeitz U, Lieberherr M, Gniadecki R, Möller G, Adamski J, Balling R. (2002) Deletion of deoxyribonucleic acid binding domain of the vitamin D receptor abrogates genomic and nongenomic functions of vitamin D. Mol Endocrinol, 16 (7): 1524-37. [PMID:12089348]

7. Fujishima T, Kojima Y, Azumaya I, Kittaka A, Takayama H. (2003) Design and synthesis of potent vitamin D receptor antagonists with A-ring modifications: remarkable effects of 2alpha-methyl introduction on antagonistic activity. Bioorg Med Chem, 11 (17): 3621-31. [PMID:12901907]

8. Herdick M, Steinmeyer A, Carlberg C. (2000) Carboxylic ester antagonists of 1alpha,25-dihydroxyvitamin D(3) show cell-specific actions. Chem Biol, 7 (11): 885-94. [PMID:11094341]

9. Hughes MR, Malloy PJ, Kieback DG, Kesterson RA, Pike JW, Feldman D, O'Malley BW. (1988) Point mutations in the human vitamin D receptor gene associated with hypocalcemic rickets. Science, 242 (4886): 1702-5. [PMID:2849209]

10. Ikeda M, Takahashi K, Dan A, Koyama K, Kubota K, Tanaka T, Hayashi M. (2000) Synthesis and biological evaluations of A-ring isomers of 26,26,26,27,27,27-hexafluoro-1,25-dihydroxyvitamin D3. Bioorg Med Chem, 8 (8): 2157-66. [PMID:11003160]

11. Kamei Y, Kawada T, Fukuwatari T, Ono T, Kato S, Sugimoto E. (1995) Cloning and sequencing of the gene encoding the mouse vitamin D receptor. Gene, 152 (2): 281-2. [PMID:7835717]

12. Kliewer SA, Umesono K, Mangelsdorf DJ, Evans RM. (1992) Retinoid X receptor interacts with nuclear receptors in retinoic acid, thyroid hormone and vitamin D3 signalling. Nature, 355 (6359): 446-9. [PMID:1310351]

13. Li YC, Pirro AE, Amling M, Delling G, Baron R, Bronson R, Demay MB. (1997) Targeted ablation of the vitamin D receptor: an animal model of vitamin D-dependent rickets type II with alopecia. Proc Natl Acad Sci USA, 94 (18): 9831-5. [PMID:9275211]

14. Makishima M, Lu TT, Xie W, Whitfield GK, Domoto H, Evans RM, Haussler MR, Mangelsdorf DJ. (2002) Vitamin D receptor as an intestinal bile acid sensor. Science, 296 (5571): 1313-6. [PMID:12016314]

15. Miyamoto K, Murayama E, Ochi K, Watanabe H, Kubodera N. (1993) Synthetic studies of vitamin D analogues. XIV. Synthesis and calcium regulating activity of vitamin D3 analogues bearing a hydroxyalkoxy group at the 2 beta-position. Chem Pharm Bull, 41 (6): 1111-3. [PMID:8396500]

16. Peleg S, Uskokovic M, Ahene A, Vickery B, Avnur Z. (2002) Cellular and molecular events associated with the bone-protecting activity of the noncalcemic vitamin D analog Ro-26-9228 in osteopenic rats. Endocrinology, 143 (5): 1625-36. [PMID:11956143]

17. Rochel N, Wurtz JM, Mitschler A, Klaholz B, Moras D. (2000) The crystal structure of the nuclear receptor for vitamin D bound to its natural ligand. Mol Cell, 5 (1): 173-9. [PMID:10678179]

18. Saito N, Matsunaga T, Saito H, Anzai M, Takenouchi K, Miura D, Namekawa J, Ishizuka S, Kittaka A. (2006) Further synthetic and biological studies on vitamin D hormone antagonists based on C24-alkylation and C2alpha-functionalization of 25-dehydro-1alpha-hydroxyvitamin D(3)-26,23-lactones. J Med Chem, 49 (24): 7063-75. [PMID:17125259]

19. Sato K, Nishii Y, Woodiel FN, Raisz LG. (1993) Effects of two new vitamin D3 derivatives, 22-oxa-1 alpha-25-dihydroxyvitamin D3 (OCT) and 2 beta-(3-hydroxypropoxy)-1 alpha, 25-dihydroxyvitamin D3 (ED-71), on bone metabolism in organ culture. Bone, 14 (1): 47-51. [PMID:8443002]

20. Shiina Y, Abe E, Miyaura C, Tanaka H, Yamada S, Ohmori M, Nakayama K, Takayama H, Matsunaga I, Nishii Y, DeLuca HF, Suda T. (1983) Biological activity of 24,24-difluoro-1 alpha, 25-dihydroxyvitamin D3 and 1 alpha, 25-dihydroxyvitamin D3-26,23-lactone in inducing differentiation of human myeloid leukemia cells. Arch Biochem Biophys, 220 (1): 90-4. [PMID:6572492]

21. Sicinski RR, Prahl JM, Smith CM, DeLuca HF. (1998) New 1alpha,25-dihydroxy-19-norvitamin D3 compounds of high biological activity: synthesis and biological evaluation of 2-hydroxymethyl, 2-methyl, and 2-methylene analogues. J Med Chem, 41 (23): 4662-74. [PMID:9804706]

22. Verlinden L, Verstuyf A, Van Camp M, Marcelis S, Sabbe K, Zhao XY, De Clercq P, Vandewalle M, Bouillon R. (2000) Two novel 14-Epi-analogues of 1,25-dihydroxyvitamin D3 inhibit the growth of human breast cancer cells in vitro and in vivo. Cancer Res, 60 (10): 2673-9. [PMID:10825140]

23. Weyts FA, Dhawan P, Zhang X, Bishop JE, Uskokovic MR, Ji Y, Studzinski GP, Norman AW, Christakos S. (2004) Novel Gemini analogs of 1alpha,25-dihydroxyvitamin D(3) with enhanced transcriptional activity. Biochem Pharmacol, 67 (7): 1327-36. [PMID:15013848]

24. Wiberg K, Ljunghall S, Binderup L, Ljunggren O. (1995) Studies on two new vitamin D analogs, EB 1089 and KH 1060: effects on bone resorption and osteoclast recruitment in vitro. Bone, 17 (4): 391-5. [PMID:8573413]

25. Yoshizawa T, Handa Y, Uematsu Y, Takeda S, Sekine K, Yoshihara Y, Kawakami T, Arioka K, Sato H, Uchiyama Y, Masushige S, Fukamizu A, Matsumoto T, Kato S. (1997) Mice lacking the vitamin D receptor exhibit impaired bone formation, uterine hypoplasia and growth retardation after weaning. Nat Genet, 16 (4): 391-6. [PMID:9241280]

26. Zeitz U, Weber K, Soegiarto DW, Wolf E, Balling R, Erben RG. (2003) Impaired insulin secretory capacity in mice lacking a functional vitamin D receptor. FASEB J, 17 (3): 509-11. [PMID:12551842]

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