OMIA 001263-9796 : Coat colour, champagne in Equus caballus
Category: Pigmentation phene
Possibly relevant human trait(s) and/or gene(s) (MIM number): 606561 (gene)
Links to MONDO diseases: No links.
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.
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|SLC36A1||solute carrier family 36 (proton/amino acid symporter), member 1||Equus caballus||NW_019643139.1 (54050..97667)||SLC36A1||Homologene, Ensembl, NCBI gene|
By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.
WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
|OMIA Variant ID||Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Source of Genetic Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|152||Coat colour, champagne||SLC36A1||missense||Naturally occurring variant||EquCab3.0||14||g.26012449G>C||c.188C>G||p.(T63R)||2008||18802473||Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool|
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.
|2012||Svensson, E.M., Telldahl, Y., Sjöling, E., Sundkvist, A., Hulth, H., Sjøvold, T., Götherström, A. :>|
|Coat colour and sex identification in horses from Iron Age Sweden. Ann Anat 194:82-7, 2012. Pubmed reference: 22154005. DOI: 10.1016/j.aanat.2011.11.001.|
|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.|
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