| Primary Identifier | MGI:6304458 | 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 |
| description | https://mutagenetix.utsouthwestern.edu/phenotypic/phenotypic_rec.cfm?pk=4194 |
| molecularNote | ENU-induced T to C transition at base pair 15,786,050 (v38) on chromosome 16, or base pair 148,608 in the GenBank genomic region NC_000082 within the splice donor site of intron 64 (2-base pairs from exon 64 [out of 86 total exons]). The effect of the mutation at the cDNA and protein levels has not been examined, but the mutation is predicted to result in the use of a cryptic site in exon 64, which would cause an 89-base pair deletion in exon 64. The resulting protein product would have a frame-shift beginning after amino acid 2,946 (the protein is normally 4,128 amino acids in length) and termination after the inclusion of two aberrant amino acids. |
