ENU-induced T to C transition at base pair 15,652,552 (v38) on chromosome 16, or base pair 15,109 in the GenBank genomic regionNC_000082 for the Prkdc gene. 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 of the DNA-PKCS protein, coding of 21 aberrant amino acids (amino acids 208-228), and coding of a premature stop codon after amino acid 228.

Homozygous: Mice showed a diminished T-dependent antibody response to ovalbumin (OVA) administered with aluminum hydroxide.

Heterozygous: No abnormal phenotype detected.

Original mutant was a C57BL/6J G3 ENU-induced mutant; all subsequent crosses to maintain strain were on C57BL/6J background only.

Wild-type littermates or C57BL/6J mice

The MMRRC Centers have developed a genetic QC pipeline using MiniMUGA array genotyping to provide additional information on strain backgrounds for MMRRC congenic and inbred strains. For more information on when data may be available, or to request genotyping for a strain of interest, please contact . Older strains may not have this information.