ENU mutagenesis induced a C to A transversion at base pair 80,730,042 (v38) on Chromosome 10, or 12,170 in the GenBank genomic region NC_000076 encoding Ap3d1. The mutation corresponds to residue 510 in the mRNA sequence NM_007460 within exon 4 of 31 total exons. The mutation results in an alanine (A) to glutamic acid (E) substitution at amino acid 97 (A97E). (J:203758)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count