Primary Identifier | MGI:6285188 | 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=3811 |
molecularNote | ENU-induced T to C transition at base pair 15,808,058 (v38) on chromosome 16, or base pair 170,616 in the GenBank genomic region NC_000082 for Prkdc. The mutation corresponds to residue 9,970 in the mRNA sequence NM_011159 within exon 71 of 86 total exons. The mutation results in a leucine to serine substitution at position 3,316 (L3316S) in the DNA-PKCS protein. |