ENU-induced T to C transition at base pair 122,289,514 (v38) on chromosome 7, or base pair 390 in the GenBank genomic region NC_000073. The mutation corresponds to residue 390 in the mRNA sequence NM_008855 within exon 1 of 17 total exons. The mutation results in an isoleucine to threonine substitution at position 57 (I57T) in the PKC protein. (J:274860)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count