ENU treatment induced a T-to-A transversion at base pair 121,211,313 (GRCm38) on chromosome 2, or base pair 79,013 in the GenBank genomic region NC_000068. The mutation corresponds to residue 3,890 in the mRNA sequence NM_013735 within exon 18 of 28 total exons. The mutation results in substitution of valine 1254 with an aspartic acid (p.V1254D) in the protein. (J:254852)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count