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Locus Information: MITF locus

Inheritance: autosomal dominant

→ Only one copy of the mutation is required to see the phenotype.

General Information:

  • Pattern with a diluted base color.
  • Widespread white patches on belly, legs and head.
  • This pattern has only been found in one Franches-Montagnes stallion.  The horse was deaf, and because the pattern also caused reduced fertility, it is unlikely that there are any other horses with this mutation.

Possible Genotypes:

Genotype: Effects:
n/n No Macchiato mutation.
M/n The horse has one copy of the M-variant → pattern with indistinct edges and diluted base color. Deafness and reduced fertility are possible.
M/M The horse has two copies of the M-variant → effects unknown.
→ CAG is offering this test but it is quite unlikely that another horse might have the same mutation since it is believed that the stallion had no offspring. If you’re unsure which test is the right one for your horse, please contact us. You will find information on other patterns here.


Test information: This test detects the change of a single basepair 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 Online Mendelian Inheritance in Animals.

Test #: H212

Samples: Blood, Hair

Price: 35 € (net)

Time required: 10-14 days

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