Microphthalmia-associated transcription factor mutations are associated with white-spotted coat color in swamp buffalo.

The nonsense variant showed a highly significant association with white spotting ( P = 1.3 × 10 −7 ; Table 1 ).

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There was a clear trend that individuals that carry the splice‐site variant show a less pronounced white‐spotting phenotype compared with most of the animals carrying the nonsense variant, suggesting that this is a partial loss‐of‐function allele, whereas the nonsense mutation results in a null allele.

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