The molecular mutation is a premature stop codon in exon 3, corresponding to the homeobox domain of the encoded protein. (J:30800, J:32083)
Basic Information
129S1/Sv-Oca2+ Tyr+ KitlSl
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count