ENU mutagenesis induced a T to G transversion at base pair 111,262,036 (v38) on chromosome 12, or base pair 95,667 in the GenBank genomic region NC_000078. The mutation corresponds to residue 2,041 in the mRNA sequence NM_011632 within exon 12 of 12 total exons. The mutation results in an aspartic acid (D) to glutamic acid (E) substitution at position 560 (D560E). (J:217797)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count