ENU mutagenesis induced a T to A transversion at base pair 94,397,302 (v38) on chromosome 3, or base pair 24,587 in the GenBank genomic region NC_000069. The mutation corresponds to residue 1,598 in the mRNA sequence NM_011281 within exon 11 of 11 total exons. The mutation results in substitution of tyrosine 500 for a premature stop codon (Y500*). (J:217792)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count