Color: Piebald (also known as parti or random white)
Samples Accepted: Blood, Buccal Swabs
Locus Information: S locus: Piebald is a color pattern of white spotting which differs among breeds. In some breeds such as the Great Dane, Italian Greyhound, Rough and Smooth Collie and Shetland Sheepdog, one copy of the allele leads to the phenotype of “mantle”; in Bull Terriers and Boxers this is known as “flash”.
Two copies of the allele leads to “color-headed whites” or completely white dogs; the influence of other genes or alleles may also affect the phenotype. In other breeds, two copies of the piebald allele are necessary to show white spotting. Other white spotting patterns are also possible, either as mutations in other genes or other alleles in the MITF gene which interacts with the piebald allele.
Test Information: This mutation test identifies a SINE insertion upsteam of the MITF gene that is associated with the piebald and extreme white color patterns.
Karlsson, E.K., Baranowska, I., Wade, C.M., Salmon Hillbertz, N.H., Zody, M.C., Anderson, N., Biagi, T.M., Patterson, N., Pielberg, G.R., Kulbokas, E.J., Comstock, K.E., Keller, E.T., Mesirov, J.P., von Euler, H., Kämpe, O., Hedhammar, A., Lander, E.S., Andersson, G., Andersson, L., Lindblad-Toh, K.: Efficient mapping of mendelian traits in dogs through genome-wide association. Nat Genet 39:1321-8, 2007. Pubmed reference: 17906626. Doi: 10.1038/ng.2007.10.
Baranowska Körberg, I., Sundström, E., Meadows, J.R., Rosengren Pielberg, G., Gustafson, U., Hedhammar, Å., Karlsson, E.K., Seddon, J., Söderberg, A., Vilà, C., Zhang, X., Åkesson, M., Lindblad-Toh, K., Andersson, G., Andersson, L.: A simple repeat polymorphism in the MITF-M promoter is a key regulator of white spotting in dogs. PLoS One 9:e104363, 2014. Pubmed reference: 25116146. Doi: 10.1371/journal.pone.0104363.
Further information is available at the Online Mendelian Inheritance in Animals website.