Dominant White 12 (W12)
Gene or Region: KIT
Reference Variant: TCTGC (N)
Mutant Variant: - (W12)
Affected Breeds: Thoroughbred
Research Confidence: High - Mutations in KIT have been well-documented to cause white spotting in both the horse and other species
Explanation of Results: W12/W12 = homozygous for Dominant White 12, white markings expressed W12/n = heterozygous for Dominant White 12, white markings expressed n/n = no variant detected
General Description for Dominant White 12
Dominant White 12 (W12) is found in Thoroughbreds and may result in a 50% white coat.
W12 Founder: Not stated (born 2010, deceased 2010)
W12 Phenotype: Roughly 50% white
Gene Information
KIT is a tyrosine kinase receptor that is vital for normal development. Mutations in other species have led to white spotting, anemia, sterility, and certain types of tumors. However, no negative health effects associated with dominant white have ever been documented in the horse. The various W alleles encompass a variety of mutations, all resulting in changes to the encoded protein.
References
Haase B et al., “Allelic heterogeneity at the equine KIT locus in dominant white (W) horses.” (2007) PLoS Genet. 3: e195.
Haase B et al., “Seven novel KIT mutations in horses with white coat colour phenotypes.” (2009) Anim Genet. 40: 623-9.
Holl H et al., “De novo mutation of KIT discovered as a result of a non-hereditary white coat colour pattern.” (2010) Anim Genet. 41: 196-8.
Haase B et al., “Five novel KIT mutations in horses with white coat colour phenotypes.” (2011) Anim Genet. 42: 337-9.
Hauswirth R et al., “Novel variants in the KIT and PAX3 genes in horses with white-spotted coat colour phenotypes.” (2013) Anim Genet. 44: 763-5.
Holl H et al., “A novel splice mutation within equine KIT and the W15 allele in the homozygous state lead to all white coat color phenotypes.” (2017) Anim Genet. DOI: 10.1111/age.12554
Durig N et al., “Whole genome sequencing reveals a novel deletion variant in the KIT gene in horses with white spotted coat colour phenotypes.” (2017) Anim Genet. In press.
More Horse Color Genetics
Cream
Cream (CR) is a dilution that is characterized by diluting or lightening both black-based and red-based horses. A single CR allele lightens red pigment to Palomino but does not overtly affect Black pigment. Two CR alleles results in extreme dilution of the hair, skin, and eyes of any color, though black-based horses tend to retain more pigment than red-based horses.