ENU-induced A to T transversion at base pair 80,674,708 (v38) on chromosome 11, or base pair 105,348 in the GenBank genomic region NC_000077 encoding Myo1d. The mutation corresponds to residue 1,435 in the mRNA sequence NM_177390 within exon 10 of 22 total exons. The mutation results in an asparagine (N) to isoleucine (I) substitution at amino acid 401 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