Dominant White 18 (W18)
Gene or Region: KIT
Reference Variant: C (N)
Mutant Variant: T (W18)
Affected Breeds: Swiss Warmblood
Research Confidence: High - Mutations in KIT have been well-documented to cause white spotting in both the horse and other species
Explanation of Results: W18/W18 = homozygous for Dominant White 18, white markings expressed W18/n = heterozygous for Dominant White 18, white markings expressed n/n = no variant detected
General Description for Dominant White 18
Dominant White 18 (W18) is found in Swiss Warmblood horses and may result in a coat with extensive speckling.
W18 Founder: Colorina Von Hoff
W18 Phenotype: Sabino-like, extensive speckling
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.