Primary Identifier | MGI:6199966 | Allele Type | Chemically induced (ENU) |
Attribute String | Not Specified | Gene | Prkcd |
Inheritance Mode | Recessive | Strain of Origin | C57BL/6J |
Is Recombinase | false | Is Wild Type | false |
Project Collection | Beutler Mutagenetix |
molecularNote | ENU-induced T to C transition at base pair 30,599,743 (v38) on chromosome 14, or base pair 26,672 in the GenBank genomic region NC_000080 encoding Prkcd. The mutation corresponds to residue 1,501 in the mRNA sequence NM_001310682 within exon 14 of 17 total exons. The mutated nucleotide is indicated in red. The mutation results in a leucine to proline substitution at position 498 (L498P) in variant 1 of the PRKCD protein. |