ENU-mutagenesis induced a T to C transistion (c.578T>C) that results in the amino acid substitution of alanine for valine at position 193 (V193A). This allele is hypomorphic. (J:199403)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count