This ENU induced mutation has both a T to A transversion at base pair 1660 causing a valine to glutamic acid subsitution at residue 460 and an A to G transition at base pair 1610 that is silent in that a glycine is still encoded at residue 443. (J:104456)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count