Prkdc^m19Btlr
Chemically induced Allele Detail

Summary

• Symbol: Prkdc^m19Btlr
• Name: protein kinase, DNA activated, catalytic polypeptide; mutation 19, Bruce Beutler
• MGI ID: MGI:6304458
• Synonyms: crackle
• Gene: Prkdc Location: Chr16:15455730-15660099 bp, + strand Genetic Position: Chr16, 10.09 cM, cytoband B1
• Alliance: Prkdc^m19Btlr page

Mutation origin

• Strain of Origin: C57BL/6J
• Project Collection: Beutler Mutagenetix

Mutation description

• Allele Type: Chemically induced (ENU) (Not Specified)
• Mutation: Translocation
• Mutation details: 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. (J:274763)
• Inheritance: Recessive

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Prkdc Mutation: 417 strains or lines available

Notes

https://mutagenetix.utsouthwestern.edu/phenotypic/phenotypic_rec.cfm?pk=4194

References

• Original: J:274763 Zhong X, et al., Mutagenetix entry for crackle. MGI Direct Data Submission. 2019
• All: 1 reference(s)