ENU mutagenesis induced a G to A point mutation causing the amino acid substitution of cysteine to tyrosine at position 120 (C120Y) in isoform A (OVOL2-A) and position 87 (C87Y) in the shorter isoform B (OVOL2-B). (J:330954)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count