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The dominant white phenotype in pigs is thought to be mainly due to a structural mutation in the  KIT  gene, a splice mutation (G > A) at the first base in intron 17 which leads to the deletion of exon 17 in the mature  KIT  mRNA. However, this hypothesis has not yet been validated by functional studies. Here, we created two mouse models,  KIT  D17/+   to mimic the splice mutation, and  KIT  Dup/+   to partially mimic the duplication mutation of  KIT  gene in dominant white pigs using CRISPR/Cas9 technology. We found that the splice mutation homozygote is lethal and the heterozygous mice have a piebald coat. Slightly increased expression of KIT in  KIT  Dup/+  mice did not confer the patched phenotype and had no obvious impact on coat color. Interestingly, the combination of these two mutations reduced the phosphorylation of PI3K and MAPK pathway associated proteins, which may be related to the impaired migration of melanoblasts observed during embryonic development that eventually leads to the dominant white phenotype.

Functional Analysis of KIT Gene Structural Mutations Causing the Porcine Dominant White Phenotype Using Genome Edited Mouse Models