ENU-induced T to C transition at base pair 30,610,301 (v38) on chromosome 14, or base pair 16,114 in the GenBank genomic region NC_000080 encoding Prkcd. The mutation corresponds to residue 10 in the mRNA sequence NM_001310682 within exon 1 of 17 total exons. The mutation results in a methionine to threonine substitution at position 1 (M1T) in the PRKCD protein. (J:265145)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count