ENU mutagenesis induced a T to C transition in exon 2 that results in the amino acid substitution of proline for leucine at position 122. This mutation is predicted to alter the tertiary structure. (J:181670)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count