ENU mutagenesis induced a T to G transversion at base pair 20030796 (v38) on chromosome 3 in the GenBank genomic region NC_000069. The mutation corresponds to residue 272 in the mRNA sequence NM_080634 within exon 2 of 17 total exons. The mutation results in a leucine (L) to arginine (R) substitution at residue 76. (J:201725)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count