ENU induced a single base pair change from G to A, that results in the amino acid substitution of a cysteine for tyrosine at position 294 (C294Y), which disrupts the second zinc RING finger binding domain. (J:216140)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count