This mutation occurred spontaneously at The Jackson Laboratory in 2001. This mutation causes a phenotype similar to that of the original caracul mutation, and maps to the same region of Chr 15; however, because both mutations are dominant, 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