ENU-induced T to C transition at base pair 80,484,332 (v38) on chromosome 11 corresponding to base pair 295,724 in the GenBank genomic region NC_000077 encoding Myo1d. The mutation corresponds to residue 3,148 in the mRNA sequence NM_177390 within exon 22 of 22 total exons. The mutation results in a leucine (L) to proline (P) substitution at position 972 (L972P) 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