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A de novo 2.3 kb structural variant in MITF explains a novel splashed white phenotype in a Thoroughbred family.

Animal genetics - 1 Dec 2023

Bellone R R, Tanaka J, Esdaile E, Sutton R B, Payette F, Leduc L, Till B J, Abdel-Ghaffar A K, Hammond M, Magdesian K G

Abstract excerpt

Splashed white in horses is characterized by extensive white patterning on the legs, face and abdomen and may be accompanied by deafness. To date, seven variants in microphthalmia-associated transcription factor (MITF) and two variants in Paired Box 3 (PAX3) have been identified to explain this phenotype. A splashed white Thoroughbred stallion, whose sire and dam were not patterned, was hypothesized to have a de...

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PMID: 37697831
DOI: 10.1111/age.13352

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