Due to the increasing number of cleft palate cases, a genetic study was undertaken. After identifying the probable founding ancestor and confirming the autosomal recessive determinism, mapping combined with sequencing of two affected animals identified two deleterious and linked mutations in the same exon of the MYH3 gene, coding for a myosin heavy chain. The MYH3 gene is predominantly expressed in skeletal muscles, including craniofacial muscles, during embryonic development. Functional studies have confirmed the impact of these mutations: in cattle with cleft palate, there is an absence of MYH3 protein.

Both mutations have been included on the genotyping chips used for genomic selection, which greatly facilitates the management of this anomaly within the Limousin breed. Furthermore, this bovine model will allow a better understanding of the relationship between the development of the palate and the craniofacial muscles.