ENU-induced A to T transversion at base pair 15,829,697 (v38) on chromosome 16, or base pair 192,255 in the GenBank genomic region NC_000082 for Prkdc. The mutation corresponds to residue 11,007 in the mRNA sequence NM_011159 within exon 77 of 86 total exons. The mutation results in an isoleucine to phenylalanine substitution at position 3,662 (I3662F) in the DNA-PKCS protein. (J:272442)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count