Deutsch
Hrvatski
Русский
Português
Champagne Dilution
| Acronym: | CD |
| Gene: | SLC36A1 |
| Mutation: | c.188C>G |
| Inheritance: | Autosomal Dominant |
| Sample type: | WBE (Whole Blood EDTA), HA (Hairs - with roots) |
Genetics and characteristics
Horses display a huge variety of distinct coat color patterns that breeders value and they are often caused by a variant in genes responsible for pigment synthesis. Several genes are known to diminish the intensity of the coloration and cause “dilutions”. One of those dilutions is Champagne Dilution responsible for diluting both red and black pigment as well as causing pinkish/lavender skin and amber-colored eyes. The cause of champagne coat color is a point mutation in the SLC36A1 gene that plays a role in melanosome synthesis and may be responsible for altering the pH gradient of the cell. The champagne dilution may differ depending on the base coat the horse has. A black horse with a SLC36A1 mutation will dilute to classic champagne, a bay horse to champagne or amber, and a chestnut horse to golden champagne.
Champagne dilution in horses has an autosomal dominant mode of inheritance. That means horses with even one mutated SLC36A1 gene will dilute to champagne coat color, not only horses with two mutated genes. Horses with a specific mutation within the SLC36A1 gene may also show other characteristics depending on their base boat color such as brown points and a flaxen mane and tail. Early detection by genetic testing can help identify carriers of the mutation and help breeders in further selection of mating pairs.
Results Reported As
Test Result |
Interpretation of test result |
Normal coat color |
Horse does not have the gene with the mutation and has a normal coat color. |
Champagne dilution - Carrier of normal |
Horse has one copy of the gene with the mutation and displays a diluted coat color. |
Champagne dilution |
Horse has two copies of the gene with the mutation and displays a diluted coat color. |
References:
Cook, D., Brooks, S., Bellone, R., Bailey, E. (2008). Missense mutation in exon 2 of SLC36A1 responsible for champagne dilution in horses. PLoS genetics, 4(9), e1000195. https://doi.org/10.1371/journal.pgen.1000195
Sponenberg, D. P., Bowling, A. T. (1996). Champagne, a dominant color dilution of horses. Genetics, Selection, Evolution : GSE, 28(5), 457–462. https://doi.org/10.1186/1297-9686-28-5-457