Splashed White 5 (SW5)
Gene or Region: MITF
Mutant Variant: - (SW5)
Affected Breeds: Quarter Horse & Paint Horse
Research Confidence: High - Mutations in MITF and PAX3 have been well-documented to cause white spotting in both the horse and other species, even humans!
Explanation of Results: SW5/SW5 = homozygous for Splashed White 5, not been observed and may be embryonic lethal SW5/n = heterozygous for Splashed White 5, white markings and blue eyes possibly expressed and may be accompanied by deafness n/n = no trait expressed
General Description for Splashed White 5
Splashed White 5 (SW5) is found in Quarter and Paint Horses, and may result in bald/white face and two blue eyes, often white socks with body markings and potentially deafness. Splashed White 5 may be lethal in combination with some other Splashed Whites located on the MITF region as no living SW5, SW3 combinations have been observed to date.
Learn more about the link between blue-eyed SW5 horses and Waardenburg Syndrome in Humans.
Phenotype
Bald / white face, blue eyes, often white socks, and a high incidence of deafness.
Gene Information
MITF is a transcription factor that serves to activate several key genes involved in the development of pigmentation.
References
McFadden, A., Martin, K., Foster, G., Vierra, M., Lundquist, E., Everts, R., Martin, E., Volz, E., McLoone, K., Brooks, S., Lafayette, C. (2023) Two Novel Variants in MITF and PAX3 Associated with Splashed White Phenotypes in Horses. Journal of Equine Veterinary Science, July 2023.
Patterson, et. al., "Non-frameshift deletion on MITF is associated with a novel splashed white spotting pattern in horses (Equus caballus)" (2022) Anim Genet. 2022 Jun 7. doi: 10.1111/age.13225
Henkel, et al., "Whole-genome sequencing reveals a large deletion in the MITF gene in horses with white spotted coat colour and increased risk of deafness" (2019) Anim Genet. 50: 172-4.
Hauswirth R et al., “Mutations in MITF and PAX3 cause "splashed white" and other white spotting phenotypes in horses.” (2012) PLoS Genet. 8: e1002653.
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.
Magdesian, KG et al., "A de novo MITF deletion explains a novel splashed white phenotype in an American Paint Horse." (2020) The American Genetic Association
Photo of TK Ollies After Shock, courtesy of Penny Kleinschmidt
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.