ENU-induced T to C transition at base pair 133,012,692 (v38) on chromosome 1, or base pair 17,896 in the GenBank genomic region NC_000067 encoding Mdm4. The mutation corresponds to residue 300 in the mRNA sequence NM_008575 within exon 3 of 12 total exons. The mutation results in a leucine to proline substitution at amino acid 34 (L34P) in the MDM4 protein. (J:272830)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count