OMIA 001263-9796 : Coat colour, champagne in Equus caballus

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Dominant

Considered a defect: no

Key variant known: yes

Year key variant first reported: 2008

Mapping: From a genome scan with 102 microsatellites, Cook et al. (2008) mapped this trait to a 6 cM region on chromosome ECA14.

Molecular basis: Sequencing of three candidate genes in the mapped region (see Mapping section above) enabled Cook et al. (2008) to identify a causal mutation as the substitution of "C to a G at base 76 of exon 2 (c.188C>G)" of the SLC36A1 gene, resulting in the amino-acid substitution T63R.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
SLC36A1 solute carrier family 36 (proton/amino acid symporter), member 1 Equus caballus - no genomic information (-..-) SLC36A1 Homologene, Ensembl, NCBI gene

Variants

By default, variants are sorted chronologically by year of publication, to provide a historical perspective.

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Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Coat colour, champagne SLC36A1 missense EquCab2 14 g.26701092C>G c.188C>G p.T63R 2008 18802473 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool

References


Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
2010 Bellone, RR. :
Pleiotropic effects of pigmentation genes in horses. Anim Genet 41 Suppl 2:100-10, 2010. Pubmed reference: 21070283. DOI: 10.1111/j.1365-2052.2010.02116.x.
2009 Rieder, S. :
Molecular tests for coat colours in horses. J Anim Breed Genet 126:415-24, 2009. Pubmed reference: 19912415. DOI: 10.1111/j.1439-0388.2009.00832.x.
2008 Cook, D., Brooks, S., Bellone, R., Bailey, E. :
Missense mutation in exon 2 of SLC36A1 responsible for champagne dilution in horses. PLoS Genet 4:e1000195, 2008. Pubmed reference: 18802473. DOI: 10.1371/journal.pgen.1000195.
1996 Sponenberg, D.P., Bowling, A.T. :
Champagne, a dominant color dilution of horses Genetics Selection Evolution 28:457-462, 1996.

Edit History


  • Created by Frank Nicholas on 13 Jul 2009
  • Changed by Frank Nicholas on 11 Sep 2011
  • Changed by Frank Nicholas on 09 Dec 2011
  • Changed by Frank Nicholas on 06 Jan 2013
  • Changed by Frank Nicholas on 19 Jun 2013