ENU-induced T to C transition at base pair 5,829,512 (v38) on chromosome 11, or base pair 8,831 in the GenBank genomic region NC_000077. The mutation corresponds to residue 1,550 in the mRNA sequence NM_017401 within exon 9 of 11 total exons. The mutation results in a phenylalanine to leucine substitution at position 429 (F429L) in the Polm protein. (J:272866)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count