这种突变于2001年在Jackson实验室自发发生,其导致的表型类似于原caracul突变,且位于15号染色体相同区域。但由于两种突变都是显性的,所以没有进行补救性测试。 (Source: This mutation occurred spontaneously at The Jackson Laboratory in 2001. It causes a phenotype similar to that of the original caracul mutation, and maps to the same chromosomal region on Chr 15; however, due to their dominance, complementation testing was not performed.)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count