Primary Identifier | MGI:6114123 | Allele Type | Chemically induced (ENU) |
Attribute String | Not Specified | Gene | Prkdc |
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 15,740,332 (v38) on chromosome 16, or base pair 102,890 in the GenBank genomic region NC_000082 within the donor splice site of intron 51. The effect of the mutation at the cDNA and protein level have not examined, but the mutation is predicted to result in skipping of the 132-nucleotide exon 51 (out of 86 total exons), resulting in an in-frame deletion of 44 amino acids beginning after amino acid 2,250 of the protein, which is normally 4128 amino acids long. |