ENU-induced A to T transversion at base pair 80,557,521 (v38) on chromosome 11 corresponding to base pair 222,535 in the GenBank genomic region NC_000077 encoding Myo1d. The mutation corresponds to residue 3,010 in the mRNA sequence NM_177390 within exon 21 of 22 total exons. residue 218 in the mRNA sequence NM_024184 within exon 1 of 4 total exons. The mutation results in an aspartic acid to valine substitution at position 926 (D926V) 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