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

Categories: Pigmentation phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 606561 (gene)

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.

Breeds: American Cream Draft (Horse) (VBO_0017088), American Miniature Horse (Horse) (VBO_0000896), American Paint (Horse) (VBO_0000897), American Saddle Horse (Horse) (VBO_0000898), Appaloosa (Horse) (VBO_0000904), Missouri Fox Trotting Horse (Horse) (VBO_0017148), Quarter Horse (Horse) (VBO_0001057), Tennessee Walking Horse (Horse) (VBO_0001081).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).

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 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 Year Published PubMed ID(s) Acknowledgements
152 American Cream Draft (Horse) American Miniature Horse (Horse) American Paint (Horse) American Saddle Horse (Horse) Appaloosa (Horse) Kentucky Mountain Saddle, United States of America (Horse) Missouri Fox Trotting Horse (Horse) Quarter Horse (Horse) Tennessee Walking Horse (Horse) Coat colour, champagne SLC36A1 missense Naturally occurring variant EquCab3.0 14 NC_009157.3:g.26012449G>C XM_023617382.1:c.188C>G XP_023473150.1:p.(T63R) rs5334475190 2008 18802473 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:001263-9796: Online Mendelian Inheritance in Animals (OMIA) [dataset].


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.

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
  • Changed by Imke Tammen2 on 03 Jun 2024