ENU mutagenesis induced a T to G transversion at base pair 98,085,466 (v38) on chromosome 7, or base pair 34,057 in the GenBank genomic region NC_000073. The mutation corresponds to residue 2,113 in the mRNA sequence NM_001256081 within exon 4 of 6 total exons. The mutation results in a leucine (L) to arginine (R) substitution at position 618 (L618R). (J:213050)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count