Gephebase

Gephebase Search Results

This Summary Table shows only the major fields for each entry. If you are interested in other fields (gene synonyms, GO terms, molecular details of the mutation, comments, etc.), please export the .csv file, which contains the complete data for each entry. Please click on a GepheID if you want to see all information regarding a particular entry.

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Your research retrieved 14 results.

Gene	Trait	Mutation	Taxon B	Taxonomic Status	Evidence	Main Reference
Agouti	Coloration	Coding, Deletion N	Equus caballus horse - (species) D	Intraspecific	Linkage Mapping	Rieder S; Taourit S; Mariat D ; et al. (2001) Mutations in the agouti (ASIP), the extension (MC1R), and the brown (TYRP1) loci and their associati[...] 1 Additional References Pruvost M; Bellone R; Benecke N (2011) Genotypes of predomestic horses match phenotypes painted in Paleolithic works of cave art.
Endothelin receptor B	Coloration	Coding, SNP	Equus caballus horse - (species) D	Domesticated	Candidate Gene	Metallinos DL; Bowling AT; Rine J (1998) A missense mutation in the endothelin-B receptor gene is associated with Lethal White Foal Syndrome:[...] 2 Additional References Santschi EM; Purdy AK; Valberg SJ (1998) Endothelin receptor B polymorphism associated with lethal white foal syndrome in horses. Yang GC; Croaker D; Zhang AL (1998) A dinucleotide mutation in the endothelin-B receptor gene is associated with lethal white foal syndr[...]
Kit (type III receptor protein-tyrosine kinase)	Coloration	29 Mutations:	Equus caballus horse - (species) D	Domesticated	Mixed	11 References
MC1R	Coloration	Coding, SNP	Equus caballus horse - (species)	Intraspecific	Candidate Gene	Marklund L; Moller MJ; Sandberg K ; et al. (1996) A missense mutation in the gene for melanocyte-stimulating hormone receptor (MC1R) is associated wit[...] 1 Additional References Pruvost M; Bellone R; Benecke N (2011) Genotypes of predomestic horses match phenotypes painted in Paleolithic works of cave art.
MFSD12	Coloration	Coding, Insertion N	Equus caballus horse - (species) D	Domesticated	Association Mapping	Tanaka J; Leeb T; Rushton J ; et al. (2019) Frameshift Variant in MFSD12 Explains the Mushroom Coat Color Dilution in Shetland Ponies.
Microphtalmia-associated transcription factor	Coloration	6 Mutations:	Equus caballus horse - (species) D	Domesticated	Candidate Gene	4 References
Pax3	Coloration	2 Mutations: Coding, SNP	Equus caballus horse - (species) D	Domesticated	Mixed	2 References
PMEL17	Coloration	Coding, SNP	Equus caballus horse - (species) D	Domesticated	Association Mapping	Brunberg E; Andersson L; Cothran G ; et al. (2006) A missense mutation in PMEL17 is associated with the Silver coat color in the horse. 4 Additional References Reissmann M; Bierwolf J; Brockmann GA (2007) Two SNPs in the SILV gene are associated with silver coat colour in ponies. Bellone RR (2010) Pleiotropic effects of pigmentation genes in horses. Watt B; Tenza D; Lemmon MA (2011) Mutations in or near the transmembrane domain alter PMEL amyloid formation from functional to pathog[...] Andersson LS; Wilbe M; Viluma A (2013) Equine multiple congenital ocular anomalies and silver coat colour result from the pleiotropic effec[...]
SLC24A	Coloration	2 Mutations: Coding, N	Equus caballus horse - (species) D	Domesticated	Association Mapping	Mack M; Kowalski E; Grahn R ; et al. (2017) Two Variants in SLC24A5 Are Associated with "Tiger-Eye" Iris Pigmentation in Puerto Rican Paso Fino [...]
SLC36A1	Coloration	Coding, SNP	Equus caballus horse - (species) D	Domesticated	Linkage Mapping	Cook D; Brooks S; Bellone R ; et al. (2008) Missense mutation in exon 2 of SLC36A1 responsible for champagne dilution in horses.
SLC45A2=MATP	Coloration	4 Mutations: Coding, SNP	Equus caballus horse - (species) D	Domesticated	Mixed	3 References
syntaxin-17	Coloration	Cis-regulatory, Insertion	Equus caballus horse - (species) D	Domesticated	Association Mapping	Rosengren Pielberg G; Golovko A; Sundström E ; et al. (2008) A cis-acting regulatory mutation causes premature hair graying and susceptibility to melanoma in the[...] 2 Additional References Sundström E; Imsland F; Mikko S (2012) Copy number expansion of the STX17 duplication in melanoma tissue from Grey horses. Sundström E; Komisarczuk AZ; Jiang L (2012) Identification of a melanocyte-specific, microphthalmia-associated transcription factor-dependent re[...]
T-box transcription factor (TBX3)	Coloration	2 Mutations: Cis-regulatory,	Equus caballus horse - (species) D	Intraspecific	Linkage Mapping	Imsland F; McGowan K; Rubin CJ ; et al. (2016) Regulatory mutations in TBX3 disrupt asymmetric hair pigmentation that underlies Dun camouflage colo[...]
TRPM1	Coloration	Cis-regulatory, Insertion	Equus caballus horse - (species) D	Intraspecific	Linkage Mapping	Bellone RR; Forsyth G; Leeb T ; et al. (2010) Fine-mapping and mutation analysis of TRPM1: a candidate gene for leopard complex (LP) spotting and [...] 3 Additional References Pruvost M; Bellone R; Benecke N (2011) Genotypes of predomestic horses match phenotypes painted in Paleolithic works of cave art. Bellone RR; Holl H; Setaluri V (2013) Evidence for a retroviral insertion in TRPM1 as the cause of congenital stationary night blindness a[...] Druml T; Grilz-Seger G; Neuditschko M (2017) Phenotypic and Genetic Analysis of the Leopard Complex Spotting in Noriker Horses.