ENU-induced T to A transversion at base pair 80,666,578 (v38) on chromosome 11 corresponding to base pair 113,478 in the GenBank genomic region NC_000077 encoding Myo1d. The mutation corresponds to residue 1,768 in the mRNA sequence NM_177390 within exon 12 of 22 total exons. The mutation results in a valine to glutamic acid substitution at position 512 (V512E) in the Myo1d protein. (J:267525)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count