ENU-induced T to C transition at base pair 15,795,094 (v38) on chromosome 16, or base pair 157,652 in the GenBank genomic region NC_000082 for Prkdc. The mutation corresponds to residue 9,538 in the mRNA sequence NM_011159 within exon 68 of 86 total exons. The mutation results in a valine to alanine substitution at position 3,172 (V3172A) in the DNA-PKCS protein. (J:272521)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count