This mutation appears to represent a regulatory mutation of agouti that down-regulates pheomelanin, yellow pigment, expression to 2-3 percent of wild-type in the homozygote. (J:24934)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count