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kisspeptin receptor

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Immunopharmacology Ligand  Target has curated data in GtoImmuPdb

Target id: 266

Nomenclature: kisspeptin receptor

Family: Kisspeptin receptor

Gene and Protein Information Click here for help
class A G protein-coupled receptor
Species TM AA Chromosomal Location Gene Symbol Gene Name Reference
Human 7 398 19p13.3 KISS1R KISS1 receptor 3,9-10,16,21
Mouse 7 396 10 C1 Kiss1r KISS1 receptor 10,16,21
Rat 7 396 7q11 Kiss1r KISS1 receptor 3,25
Previous and Unofficial Names Click here for help
GPR54 | Metastin receptor | hOT7T175 [21] | kiSS-1 receptor | kiSS-1R | KiSS1-derived peptide receptor
Database Links Click here for help
Specialist databases
GPCRdb kissr_human (Hs), kissr_mouse (Mm), kissr_rat (Rn)
Other databases
Alphafold
ChEMBL Target
Ensembl Gene
Entrez Gene
Human Protein Atlas
KEGG Gene
OMIM
Orphanet
Pharos
RefSeq Nucleotide
RefSeq Protein
UniProtKB
Wikipedia
Natural/Endogenous Ligands Click here for help
kisspeptin-10 {Sp: Human}
kisspeptin-13 {Sp: Human}
kisspeptin-14 {Sp: Human}
kisspeptin-54 {Sp: Human}
kisspeptin-52 {Sp: Mouse}
kisspeptin-10 {Sp: Mouse, Rat}
kisspeptin-52 {Sp: Rat}

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

Agonists
Key to terms and symbols View all chemical structures Click column headers to sort
Ligand Sp. Action Value Parameter Reference
[125I]Tyr45-kisspeptin-15 Peptide Ligand is labelled Ligand is radioactive Hs Full agonist 10.0 pKd 21
pKd 10.0 (Kd 1x10-10 M) [21]
[125I]kisspeptin-54 (human) Peptide Ligand is labelled Ligand is radioactive Hs Full agonist 10.0 pKd 21
pKd 10.0 [21]
[125I]kisspeptin-13 (human) Peptide Ligand is labelled Ligand is radioactive Hs Full agonist 9.7 pKd 13
pKd 9.7 (Kd 2x10-10 M) [13]
[125I]kisspeptin-10 (human) Peptide Ligand is labelled Ligand is radioactive Hs Full agonist 8.7 pKd 9
pKd 8.7 (Kd 1.9x10-9 M) [9]
kisspeptin-15 Peptide Hs Full agonist 10.0 pKi 21
pKi 10.0 [21]
kisspeptin-10 {Sp: Human} Peptide Ligand is endogenous in the given species Hs Full agonist 8.6 – 10.4 pKi 9,21
pKi 8.6 – 10.4 [9,21]
kisspeptin-54 {Sp: Human} Peptide Ligand is endogenous in the given species Hs Full agonist 8.8 – 9.5 pKi 9,21
pKi 8.8 – 9.5 [9,21]
kisspeptin-10 {Sp: Human} Peptide Rn Full agonist 8.8 pKi 9
pKi 8.8 [9]
kisspeptin-14 {Sp: Human} Peptide Ligand is endogenous in the given species Hs Full agonist 8.8 pKi 9
pKi 8.8 [9]
kisspeptin-13 {Sp: Human} Peptide Rn Full agonist 8.7 pKi 9
pKi 8.7 [9]
kisspeptin-14 {Sp: Human} Peptide Rn Full agonist 8.7 pKi 9
pKi 8.7 [9]
kisspeptin-54 {Sp: Human} Peptide Rn Full agonist 8.7 pKi 9
pKi 8.7 [9]
kisspeptin-13 {Sp: Human} Peptide Ligand is endogenous in the given species Hs Full agonist 8.4 pKi 9
pKi 8.4 [9]
kisspeptin-9 Peptide Hs Full agonist 7.0 pKi 21
pKi 7.0 [21]
4-fluorobenzoyl-FGLRW-NH2 Peptide Hs Full agonist 9.2 pEC50 26
pEC50 9.2 (EC50 6.9x10-10 M) [26]
kisspeptin-28 Peptide Hs Full agonist 8.8 pEC50 9
pEC50 8.8 [9]
TAK-448 Peptide Hs Agonist 8.3 pEC50 20
pEC50 8.3 (EC50 5.2x10-9 M) [20]
[dY]1KP-10 Peptide Mm Full agonist 8.4 pIC50 4
pIC50 8.4 (IC50 3.6x10-9 M) [4]
[125I]kisspeptin-14 (human) Peptide Ligand is labelled Ligand is radioactive Hs Full agonist - - 13
[13]
[d-Tyr-14C]TAK-448 Small molecule or natural product Ligand is labelled Ligand is radioactive Hs Agonist - - 15
[15]
View species-specific agonist tables
Agonist Comments
Kisspeptin-54 was originally identified as a metastasis inhibitor and hence termed metastin [11,27]. Subsequently cleavage products of the KiSS-1 gene have been identified with the shortest biologically active peptide being kisspeptin-10 [9]. As this is a novel receptor system the relative potencies of each of the cleavage peptides varies between reports, however consensus suggests that the most potent naturally occurring peptide fragment is kisspeptin-10. In addition to publications citing pEC50 and pKd values some publications have cited potency in terms of Ki ranging from 0.042 nM to 2.35 nM for kisspeptin-10 [9,21]. All kisspeptin fragments reported thus far are equipotent for both the human and rat receptors. Agonist action has also been reported for some FMRFamide-related neuropeptides, however these are low potency agonists [3,16].
Immunopharmacology Comments
Xing et al. (2018) report on the role of the kisspeptin receptor in immune system regulation [28]. Using Kiss1R knockout mice [6], they identified that the kisspeptin receptor is required for T regulatory cell development and for regulating self-tolerance. Mice lacking the receptor had significantly fewer peripheral regulatory T cells than wild-type mice, elevated T cell activation in peripheral and thymic T cells, and they developed more severe disease in an induced experimental autoimmune encephalomyelitis model.
Cell Type Associations
Immuno Cell Type:  T cells
Cell Ontology Term:   CD4-positive helper T cell (CL:0000492)
immature alpha-beta T cell (CL:0000790)
mature alpha-beta T cell (CL:0000791)
double-positive, alpha-beta thymocyte (CL:0000809)
Comment:  Expressed by thymic and splenic CD4+ T cells, and thymic stromal cells. Highest expression was identified in CD4/CD8 double positive immature thymocytes.
References:  28
Primary Transduction Mechanisms Click here for help
Transducer Effector/Response
Gq/G11 family Phospholipase C stimulation
Comments:  Activation of the kisspeptin receptor primarily results in signal transduction via Gq/G11 G-proteins. This stimulates the phospholipase C enzyme system and results in downstream calcium mobilisation. Additionally activation of the kisspeptin receptor has been shown to stimulate arachidonic acid release [9].
References:  1,3,9,16
Tissue Distribution Click here for help
Placenta, pancreas, pituitary > spinal cord >> thymus, small intestine, stomach, lung, spleen, testis, brain, kidney, foetal liver, foetal brain.
Species:  Human
Technique:  RT-PCR.
References:  9
Brain: cerebral cortex (pyramidal neurones of layers III, V, and VI ), thalamus, pons-medulla and cerebellum (the surface of the Purkinje cells and their apical dendrites).
Species:  Human
Technique:  Immunohistochemistry.
References:  16
Pancreas > placenta >> peripheral blood leukocyte > spleen, testes, small intestine, lymph node > brain > tonsil > kidney, lung, thymus, breast > colon, ovary, prostate, bone marrow.
Species:  Human
Technique:  RT-PCR.
References:  21
Brain: amygdala, thalamus, substantia nigra > hippocampus > caudate nucleus > cerebellum, corpus callosum.
Species:  Human
Technique:  RT-PCR.
References:  9
Cancer tissues: small intestine > ovary > breast >> colon.
Species:  Human
Technique:  RT-PCR.
References:  21
Pituitary > placenta > brain > lymphocytes, pancreas > spleen, adipose > heart, lung, liver, foetal liver, kidney, stomach, intestine, prostate.
Species:  Human
Technique:  RT-PCR.
References:  16
Brain : midbrain > medulla pon > hippocampus >> frontal cortex, cortex, striatum.
Species:  Rat
Technique:  Northern blotting.
References:  10
Brain: hypothalamic and amygdaloid nuclei > zona incerta, ventral tegmental area, dentate gyrus, hypothalamic arcuate nucleus, dorsomedial hypothalamic nucleus, primary olfactory cortex, lateral habenular nucleus, lateral hypothalamic area, locus coeruleus, and the cortical and medial nuclei of the amygdala > superior colliculus, medial preoptic area, anterior hypothalamic area, posterior hypothalamic nucleus, periaqueductal gray, parafascicular thalamic nucleus, parabrachial nucleus, and ventral premamillary nucleus >> septohypothalamic nucleus, inferior colliculus, medial nucleus of the amygdala, mesencephalic reticular nucleus and retrosplenial cortex.
Species:  Rat
Technique:  in situ hybridisation.
References:  10
Expression Datasets Click here for help

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Log average relative transcript abundance in mouse tissues measured by qPCR from Regard, J.B., Sato, I.T., and Coughlin, S.R. (2008). Anatomical profiling of G protein-coupled receptor expression. Cell, 135(3): 561-71. [PMID:18984166] [Raw data: website]

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Functional Assays Click here for help
Cell growth, cell migration, wound healing, cell morphology and colony formation assays performed with CHO cells transfected with the human kisspeptin receptor.
Species:  Human
Tissue:  CHO cells.
Response measured:  Inhibition of cell motility and supression of cell growth.
References:  7
Physiological Functions Click here for help
Metastasis inhibitor.
Species:  Human
Tissue:  Thyroid cancer cells.
References:  22
Metastasis inhibitor.
Species:  Human
Tissue:  Pancreatic cancer cells.
References:  12
Stimulation of FSH secretion.
Species:  Rat
Tissue:  Hypothalamus.
References:  17
Stimulation of LH release.
Species:  Rat
Tissue:  Hypothalamus.
References:  8,18-19
Inhibition of trophoblast migration.
Species:  Human
Tissue:  Placenta.
References:  2
Physiological Consequences of Altering Gene Expression Click here for help
Kisspeptin receptor knockout mice exhibit idiopathic hypogonadotropic hypogonadism. This includes small testes in male mice and a delay in vaginal opening accompanied by an absence of follicular maturation in female mice.
Species:  Mouse
Tissue: 
Technique:  Gene targeting in embryonic stem cells.
References:  23
Kisspeptin receptor knockout mice have abolished stimulation of LH and FSH release, as in wild-type mice, upon injection of kisspeptin.
Species:  Mouse
Tissue: 
Technique:  Gene targeting in embryonic stem cells.
References:  14
Kisspeptin receptor knockout mice mimic the human natural variants resulting in idiopathic hypogonadotrophic hypogonadism (IHH). This includes reduced size of the internal and external reproductive organs and an inability to reproduce.
Species:  Mouse
Tissue: 
Technique:  Gene targeting in embryonic stem cells.
References:  6
Kisspeptin receptor knockout mice develop more severe experimental autoimmune encephalomyelitis (EAE) compared to wild-type mice.
Species:  Mouse
Tissue: 
Technique:  Gene targeting in embryonic stem cells.
References:  28
Kisspeptin receptor knockout mice have an enlarged thymus with an altered thymic micro-architecture, and an increased number of thymocytes compared to wild-type mice.
Species:  Mouse
Tissue: 
Technique:  Gene targeting in embryonic stem cells.
References:  28
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
Kiss1rtm1Coll Kiss1rtm1Coll/Kiss1rtm1Coll
129S6.Cg-Gpr54
MGI:2148793  MP:0008288 abnormal adrenal cortex morphology PMID: 14573733 
Kiss1rm1Askn Kiss1rm1Askn/Kiss1rm1Askn
involves: 129/Sv * 129S1/SvImJ
MGI:2148793  MP:0005189 abnormal anogenital distance PMID: 17699664 
Kiss1rtm1Rla Kiss1rtm1Rla/Kiss1rtm1Rla
involves: 129S1/SvImJ
MGI:2148793  MP:0005189 abnormal anogenital distance PMID: 17595229 
Kiss1rtm1Coll Kiss1rtm1Coll/Kiss1rtm1Coll
129S6.Cg-Gpr54
MGI:2148793  MP:0000662 abnormal branching of the mammary ductal tree PMID: 14573733 
Kiss1rtm1Gstn Kiss1rtm1Gstn/Kiss1rtm1Gstn
involves: 129P2/OlaHsd
MGI:2148793  MP:0001119 abnormal female reproductive system morphology PMID: 14652023 
Kiss1rtm1Rla Kiss1rtm1Rla/Kiss1rtm1Rla
involves: 129S1/SvImJ
MGI:2148793  MP:0001119 abnormal female reproductive system morphology PMID: 17595229 
Kiss1rtm1Gstn Kiss1rtm1Gstn/Kiss1rtm1Gstn
involves: 129P2/OlaHsd
MGI:2148793  MP:0002161 abnormal fertility/fecundity PMID: 14652023 
Kiss1rm1Askn Kiss1rm1Askn/Kiss1rm1Askn
involves: 129/Sv * 129S1/SvImJ
MGI:2148793  MP:0000837 abnormal hypothalamus morphology PMID: 17699664 
Kiss1rtm1Gstn Kiss1rtm1Gstn/Kiss1rtm1Gstn
involves: 129P2/OlaHsd
MGI:2148793  MP:0001145 abnormal male reproductive system morphology PMID: 14652023 
Kiss1rtm1Rla Kiss1rtm1Rla/Kiss1rtm1Rla
involves: 129S1/SvImJ
MGI:2148793  MP:0001145 abnormal male reproductive system morphology PMID: 17595229 
Kiss1rm1Askn Kiss1rm1Askn/Kiss1rm1Askn
involves: 129/Sv * 129S1/SvImJ
MGI:2148793  MP:0002160 abnormal reproductive system morphology PMID: 17699664 
Kiss1rm1Askn Kiss1rm1Askn/Kiss1rm1Askn
involves: 129/Sv * 129S1/SvImJ
MGI:2148793  MP:0001919 abnormal reproductive system physiology PMID: 17699664 
Kiss1rm1Askn Kiss1rm1Askn/Kiss1rm1Askn
involves: 129/Sv * 129S1/SvImJ
MGI:2148793  MP:0003638 abnormal response/metabolism to endogenous compounds PMID: 17699664 
Kiss1rm1Askn Kiss1rm1Askn/Kiss1rm1Askn
involves: 129/Sv * 129S1/SvImJ
MGI:2148793  MP:0002566 abnormal sexual interaction PMID: 17699664 
Kiss1rtm1Coll Kiss1rtm1Coll/Kiss1rtm1Coll
129S6.Cg-Gpr54
MGI:2148793  MP:0006380 abnormal spermatid morphology PMID: 14573733 
Kiss1rtm1Rla Kiss1rtm1Rla/Kiss1rtm1Rla
involves: 129S1/SvImJ
MGI:2148793  MP:0006380 abnormal spermatid morphology PMID: 17595229 
Kiss1rtm1Coll Kiss1rtm1Coll/Kiss1rtm1Coll
129S6.Cg-Gpr54
MGI:2148793  MP:0001134 absent corpus luteum PMID: 14573733 
Kiss1rtm1Rla Kiss1rtm1Rla/Kiss1rtm1Rla
involves: 129S1/SvImJ
MGI:2148793  MP:0001134 absent corpus luteum PMID: 17595229 
Kiss1rtm1Coll Kiss1rtm1Coll/Kiss1rtm1Coll
129S6.Cg-Gpr54
MGI:2148793  MP:0009009 absent estrous cycle PMID: 14573733 
Kiss1rtm1Rla Kiss1rtm1Rla/Kiss1rtm1Rla
involves: 129S1/SvImJ
MGI:2148793  MP:0009009 absent estrous cycle PMID: 17595229 
Kiss1rtm1Coll Kiss1rtm1Coll/Kiss1rtm1Coll
129S6.Cg-Gpr54
MGI:2148793  MP:0001132 absent mature ovarian follicles PMID: 14573733 
Kiss1rtm1Rla Kiss1rtm1Rla/Kiss1rtm1Rla
involves: 129S1/SvImJ
MGI:2148793  MP:0002777 absent ovarian follicles PMID: 17595229 
Kiss1rtm1Coll Kiss1rtm1Coll/Kiss1rtm1Coll
129S6.Cg-Gpr54
MGI:2148793  MP:0006401 absent preputial gland PMID: 14573733 
Kiss1rtm1Gstn Kiss1rtm1Gstn/Kiss1rtm1Gstn
involves: 129P2/OlaHsd
MGI:2148793  MP:0006401 absent preputial gland PMID: 14652023 
Kiss1rtm1Coll Kiss1rtm1Coll/Kiss1rtm1Coll
129S6.Cg-Gpr54
MGI:2148793  MP:0001159 absent prostate gland PMID: 14573733 
Kiss1rtm1Gstn Kiss1rtm1Gstn/Kiss1rtm1Gstn
involves: 129P2/OlaHsd
MGI:2148793  MP:0001159 absent prostate gland PMID: 14652023 
Kiss1rtm1Coll Kiss1rtm1Coll/Kiss1rtm1Coll
129S6.Cg-Gpr54
MGI:2148793  MP:0003642 absent seminal vesicle PMID: 14573733 
Kiss1rtm1Gstn Kiss1rtm1Gstn/Kiss1rtm1Gstn
involves: 129P2/OlaHsd
MGI:2148793  MP:0003642 absent seminal vesicle PMID: 14652023 
Kiss1rtm1Coll Kiss1rtm1Coll/Kiss1rtm1Coll
129S6.Cg-Gpr54
MGI:2148793  MP:0008869 anovulation PMID: 14573733 
Kiss1rtm1Coll Kiss1rtm1Coll/Kiss1rtm1Coll
129S6.Cg-Gpr54
MGI:2148793  MP:0008261 arrest of male meiosis PMID: 14573733 
Kiss1rtm1Coll Kiss1rtm1Coll/Kiss1rtm1Coll
129S6.Cg-Gpr54
MGI:2148793  MP:0001155 arrest of spermatogenesis PMID: 14573733 
Kiss1rtm1Coll Kiss1rtm1Coll/Kiss1rtm1Coll
129S6.Cg-Gpr54
MGI:2148793  MP:0005159 azoospermia PMID: 14573733 
Kiss1rtm1Coll Kiss1rtm1Coll/Kiss1rtm1Coll
129S6.Cg-Gpr54
MGI:2148793  MP:0001143 constricted vagina opening PMID: 14573733 
Kiss1rtm1Gstn Kiss1rtm1Gstn/Kiss1rtm1Gstn
involves: 129P2/OlaHsd
MGI:2148793  MP:0001262 decreased body weight PMID: 14652023 
Kiss1rm1Askn Kiss1rm1Askn/Kiss1rm1Askn
involves: 129/Sv * 129S1/SvImJ
MGI:2148793  MP:0001262 decreased body weight PMID: 17699664 
Kiss1rtm1Rla Kiss1rtm1Rla/Kiss1rtm1Rla
involves: 129S1/SvImJ
MGI:2148793  MP:0001262 decreased body weight PMID: 17595229 
Kiss1rtm1Coll Kiss1rtm1Coll/Kiss1rtm1Coll
129S6.Cg-Gpr54
MGI:2148793  MP:0005181 decreased circulating estradiol level PMID: 14573733 
Kiss1rtm1Coll Kiss1rtm1Coll/Kiss1rtm1Coll
129S6.Cg-Gpr54
MGI:2148793  MP:0002790 decreased circulating follicle stimulating hormone level PMID: 14573733  15665093 
Kiss1rtm1Rla Kiss1rtm1Rla/Kiss1rtm1Rla
involves: 129S1/SvImJ
MGI:2148793  MP:0002790 decreased circulating follicle stimulating hormone level PMID: 17595229 
Kiss1rtm1Coll Kiss1rtm1Coll/Kiss1rtm1Coll
129S6.Cg-Gpr54
MGI:2148793  MP:0003363 decreased circulating gonadotropin level PMID: 14573733 
Kiss1rtm1Coll Kiss1rtm1Coll/Kiss1rtm1Coll
129S6.Cg-Gpr54
MGI:2148793  MP:0002773 decreased circulating luteinizing hormone level PMID: 14573733  15665093 
Kiss1rm1Askn Kiss1rm1Askn/Kiss1rm1Askn
involves: 129/Sv * 129S1/SvImJ
MGI:2148793  MP:0002773 decreased circulating luteinizing hormone level PMID: 17699664 
Kiss1rGt1Stei Kiss1rGt1Stei/Kiss1rGt1Stei
involves: 129S1/SvImJ * C57BL/6
MGI:2148793  MP:0002773 decreased circulating luteinizing hormone level PMID: 17978050 
Kiss1rtm1Coll Kiss1rtm1Coll/Kiss1rtm1Coll
129S6.Cg-Gpr54
MGI:2148793  MP:0002780 decreased circulating testosterone level PMID: 14573733 
Kiss1rtm1Rla Kiss1rtm1Rla/Kiss1rtm1Rla
involves: 129S1/SvImJ
MGI:2148793  MP:0002780 decreased circulating testosterone level PMID: 17595229 
Kiss1rtm1Gstn Kiss1rtm1Gstn/Kiss1rtm1Gstn
involves: 129P2/OlaHsd
MGI:2148793  MP:0003918 decreased kidney weight PMID: 14652023 
Kiss1rtm1Rla Kiss1rtm1Rla/Kiss1rtm1Rla
involves: 129S1/SvImJ
MGI:2148793  MP:0005132 decreased luteinizing hormone level PMID: 17595229 
Kiss1rm1Askn Kiss1rm1Askn/Kiss1rm1Askn
involves: 129/Sv * 129S1/SvImJ
MGI:2148793  MP:0000939 decreased motor neuron number PMID: 17699664 
Kiss1rtm1Coll Kiss1rtm1Coll/Kiss1rtm1Coll
129S6.Cg-Gpr54
MGI:2148793  MP:0004856 decreased ovary weight PMID: 14573733 
Kiss1rm1Askn Kiss1rm1Askn/Kiss1rm1Askn
involves: 129/Sv * 129S1/SvImJ
MGI:2148793  MP:0004856 decreased ovary weight PMID: 17699664 
Kiss1rtm1Rla Kiss1rtm1Rla/Kiss1rtm1Rla
involves: 129S1/SvImJ
MGI:2148793  MP:0004856 decreased ovary weight PMID: 17595229 
Kiss1rm1Askn Kiss1rm1Askn/Kiss1rm1Askn
involves: 129/Sv * 129S1/SvImJ
MGI:2148793  MP:0004910 decreased seminal vesicle weight PMID: 17699664 
Kiss1rtm1Coll Kiss1rtm1Coll/Kiss1rtm1Coll
129S6.Cg-Gpr54
MGI:2148793  MP:0004852 decreased testis weight PMID: 14573733 
Kiss1rtm1Gstn Kiss1rtm1Gstn/Kiss1rtm1Gstn
involves: 129P2/OlaHsd
MGI:2148793  MP:0004852 decreased testis weight PMID: 14652023 
Kiss1rm1Askn Kiss1rm1Askn/Kiss1rm1Askn
involves: 129/Sv * 129S1/SvImJ
MGI:2148793  MP:0004852 decreased testis weight PMID: 17699664 
Kiss1rtm1Rla Kiss1rtm1Rla/Kiss1rtm1Rla
involves: 129S1/SvImJ
MGI:2148793  MP:0004852 decreased testis weight PMID: 17595229 
Kiss1rtm1Coll Kiss1rtm1Coll/Kiss1rtm1Coll
129S6.Cg-Gpr54
MGI:2148793  MP:0001938 delayed sexual maturation PMID: 14573733 
Kiss1rtm1Coll Kiss1rtm1Coll/Kiss1rtm1Coll
129S6.Cg-Gpr54
MGI:2148793  MP:0002636 delayed vaginal opening PMID: 14573733 
Kiss1rtm1Rla Kiss1rtm1Rla/Kiss1rtm1Rla
involves: 129S1/SvImJ
MGI:2148793  MP:0002636 delayed vaginal opening PMID: 17595229 
Kiss1rm1Askn Kiss1rm1Askn/Kiss1rm1Askn
involves: 129/Sv * 129S1/SvImJ
MGI:2148793  MP:0009856 failure of ejaculation PMID: 17699664 
Kiss1rtm1Coll Kiss1rtm1Coll/Kiss1rtm1Coll
129S6.Cg-Gpr54
MGI:2148793  MP:0001926 female infertility PMID: 14573733 
Kiss1rtm1Gstn Kiss1rtm1Gstn/Kiss1rtm1Gstn
involves: 129P2/OlaHsd
MGI:2148793  MP:0001926 female infertility PMID: 14652023 
Kiss1rtm1Rla Kiss1rtm1Rla/Kiss1rtm1Rla
involves: 129S1/SvImJ
MGI:2148793  MP:0001926 female infertility PMID: 17595229 
Kiss1rtm1Gstn Kiss1rtm1Gstn/Kiss1rtm1Gstn
involves: 129P2/OlaHsd
MGI:2148793  MP:0004955 increased thymus weight PMID: 14652023 
Kiss1rm1Askn Kiss1rm1Askn/Kiss1rm1Askn
involves: 129/Sv * 129S1/SvImJ
MGI:2148793  MP:0001924 infertility PMID: 17699664 
Kiss1rtm1Gstn Kiss1rtm1Gstn/Kiss1rtm1Gstn
involves: 129P2/OlaHsd
MGI:2148793  MP:0005536 Leydig cell hypoplasia PMID: 14652023 
Kiss1rtm1Rla Kiss1rtm1Rla/Kiss1rtm1Rla
involves: 129S1/SvImJ
MGI:2148793  MP:0005536 Leydig cell hypoplasia PMID: 17595229 
Kiss1rtm1Gstn Kiss1rtm1Gstn/Kiss1rtm1Gstn
involves: 129P2/OlaHsd
MGI:2148793  MP:0001925 male infertility PMID: 14652023 
Kiss1rtm1Rla Kiss1rtm1Rla/Kiss1rtm1Rla
involves: 129S1/SvImJ
MGI:2148793  MP:0001925 male infertility PMID: 17595229 
Kiss1rtm1Gstn Kiss1rtm1Gstn/Kiss1rtm1Gstn
involves: 129P2/OlaHsd
MGI:2148793  MP:0003344 mammary gland hypoplasia PMID: 14652023 
Kiss1rtm1Rla Kiss1rtm1Rla/Kiss1rtm1Rla
involves: 129S1/SvImJ
MGI:2148793  MP:0002080 prenatal lethality PMID: 17595229 
Kiss1rtm1Coll Kiss1rtm1Coll/Kiss1rtm1Coll
129S6.Cg-Gpr54
MGI:2148793  MP:0001380 reduced male mating frequency PMID: 14573733 
Kiss1rtm1Coll Kiss1rtm1Coll/Kiss1rtm1Coll
129S6.Cg-Gpr54
MGI:2148793  MP:0008297 retention of the x-zone PMID: 14573733 
Kiss1rtm1Rla Kiss1rtm1Rla/Kiss1rtm1Rla
involves: 129S1/SvImJ
MGI:2148793  MP:0005148 seminal vesicle hypoplasia PMID: 17595229 
Kiss1rtm1Gstn Kiss1rtm1Gstn/Kiss1rtm1Gstn
involves: 129P2/OlaHsd
MGI:2148793  MP:0009226 small cervix PMID: 14652023 
Kiss1rtm1Gstn Kiss1rtm1Gstn/Kiss1rtm1Gstn
involves: 129P2/OlaHsd
MGI:2148793  MP:0004930 small epididymis PMID: 14652023 
Kiss1rtm1Coll Kiss1rtm1Coll/Kiss1rtm1Coll
129S6.Cg-Gpr54
MGI:2148793  MP:0001116 small gonad PMID: 14573733 
Kiss1rtm1Coll Kiss1rtm1Coll/Kiss1rtm1Coll
129S6.Cg-Gpr54
MGI:2148793  MP:0001127 small ovary PMID: 14573733 
Kiss1rtm1Gstn Kiss1rtm1Gstn/Kiss1rtm1Gstn
involves: 129P2/OlaHsd
MGI:2148793  MP:0001127 small ovary PMID: 14652023 
Kiss1rGt1Stei Kiss1rGt1Stei/Kiss1rGt1Stei
involves: 129S1/SvImJ * C57BL/6
MGI:2148793  MP:0001127 small ovary PMID: 17978050 
Kiss1rtm1Gstn Kiss1rtm1Gstn/Kiss1rtm1Gstn
involves: 129P2/OlaHsd
MGI:2148793  MP:0005188 small penis PMID: 14652023 
Kiss1rm1Askn Kiss1rm1Askn/Kiss1rm1Askn
involves: 129/Sv * 129S1/SvImJ
MGI:2148793  MP:0005188 small penis PMID: 17699664 
Kiss1rtm1Rla Kiss1rtm1Rla/Kiss1rtm1Rla
involves: 129S1/SvImJ
MGI:2148793  MP:0002716 small preputial glands PMID: 17595229 
Kiss1rtm1Gstn Kiss1rtm1Gstn/Kiss1rtm1Gstn
involves: 129P2/OlaHsd
MGI:2148793  MP:0001153 small seminiferous tubules PMID: 14652023 
Kiss1rtm1Coll Kiss1rtm1Coll/Kiss1rtm1Coll
129S6.Cg-Gpr54
MGI:2148793  MP:0001147 small testis PMID: 14573733 
Kiss1rGt1Stei Kiss1rGt1Stei/Kiss1rGt1Stei
involves: 129S1/SvImJ * C57BL/6
MGI:2148793  MP:0001147 small testis PMID: 17978050 
Kiss1rtm1Coll Kiss1rtm1Coll/Kiss1rtm1Coll
129S6.Cg-Gpr54
MGI:2148793  MP:0002637 small uterus PMID: 14573733 
Kiss1rtm1Gstn Kiss1rtm1Gstn/Kiss1rtm1Gstn
involves: 129P2/OlaHsd
MGI:2148793  MP:0002637 small uterus PMID: 14652023 
Kiss1rtm1Gstn Kiss1rtm1Gstn/Kiss1rtm1Gstn
involves: 129P2/OlaHsd
MGI:2148793  MP:0008983 small vagina PMID: 14652023 
Kiss1rtm1Coll Kiss1rtm1Coll/Kiss1rtm1Coll
129S6.Cg-Gpr54
MGI:2148793  MP:0001121 uterus hypoplasia PMID: 14573733 
Kiss1rtm1Gstn Kiss1rtm1Gstn/Kiss1rtm1Gstn
involves: 129P2/OlaHsd
MGI:2148793  MP:0001121 uterus hypoplasia PMID: 14652023 
Clinically-Relevant Mutations and Pathophysiology Click here for help
Disease:  Hypogonadotropic hypogonadism 8 with or without anosmia; HH8
Synonyms: Kallmann syndrome [Orphanet: ORPHA478] [Disease Ontology: DOID:3614]
Normosmic congenital hypogonadotropic hypogonadism [Orphanet: ORPHA432]
Disease Ontology: DOID:3614
OMIM: 614837
Orphanet: ORPHA478, ORPHA432
Comments: 
References:  5,23-24
Click column headers to sort
Type Species Amino acid change Nucleotide change Description Reference
Deletion Human - - Splicing acceptor site of intron 4–exon 5 junction and part of exon 5 5
Missense Human L148S 443T>C 23
Missense Human C223R c.667T>C Exon 4 24
Missense Human R297L c.891G>T 24
Nonsense Human R331X 991C>T Exon 5 23
Non-stop mutation Human X339R 1195T>A Exon 5 23
Disease:  Precocious puberty, central, 1
Disease Ontology: DOID:14038
OMIM: 176400

References

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