Dominant White 20 (W20)
Gene or Region: KIT
Reference Variant: C (N)
Mutant Variant: T (W20)
Affected Breeds: Many
Research Confidence: High - Mutations in KIT have been well-documented to cause white spotting in both the horse and other species
Explanation of Results: W20/W20 = homozygous for Dominant White 20, white markings expressed W20/n = heterozygous for Dominant White 20, white markings expressed n/n = no variant detected
General Description for Dominant White 20
Dominant White 20 (W20) is found in many breeds and may result in white markings.
W20 Founder: Unknown
W20 Phenotype: White markings - minimal to bold face / legs - thought to extend other whitesYe
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
Silver
Silver (Z) is a dilution that only affects black pigmentation. Horses often have a lighter mane and tail. Silver foals are born with striped hooves and white eyelashes. Bay silver horses retain the normal reddish body color combined with diluted legs, which is often misidentified as a chestnut.