| Primary Identifier | MGI:5688503 | Allele Type | Chemically induced (ENU) |
| Gene | Prkdc | Inheritance Mode | Recessive |
| Strain of Origin | C57BL/6J | Is Recombinase | false |
| Is Wild Type | false | Project Collection | Beutler Mutagenetix |
| molecularNote | ENU mutagenesis induced a T to C transition at base pair 15,652,552 (v38) on chromosome 16, or base pair 15,109 in the NC_000082 GenBank genomic region. The mutation is located within the donor splice site of intron 7, two nucleotides from the previous exon. Prkdc contains 86 total exons. The effect of the mutation at the cDNA and protein level is unknown. One possibility is that aberrant splicing may result in skipping of the 100 base pair exon 7 and out-of-frame splicing from exon 6 to exon 8. This would result in deletion of amino acids 208-241, coding of 21 aberrant amino acids (amino acids 208-228), and coding of a premature stop codon after amino acid 228. |
