Color: Macchiato is a color pattern in which large areas of skin and hair (including the face, legs, belly and sometimes sides) are white, and the main color of the horse is diluted. It has been documented in one Franches-Montagnes stallion, which also was deaf and had reduced fertility.
Samples Accepted: Blood, Hair
Test Information: This test detects a single base pair change in exon 6 of the MITF gene.
Hauswirth, R., Haase, B., Blatter, M., Brooks, S.A., Burger, D., Drögemüller, C., Gerber, V., Henke, D., Janda, J., Jude, R., Magdesian, K.G., Matthews, J.M., Poncet, P.A., Svansson, V., Tozaki, T., Wilkinson-White, L., Penedo, M.C., Rieder, S., Leeb, T.: Mutations in MITF and PAX3 cause “splashed white” and other white spotting phenotypes in horses. PLoS Genet 8(4):e1002653, 2012. Pubmed reference: 22511888. Doi: 10.1371/journal.pgen.1002653.
Further information is available at the Online Mendelian Inheritance in Animals website.