Prkdc^m14Btlr
Chemically induced Allele Detail

Summary

• Symbol: Prkdc^m14Btlr
• Name: protein kinase, DNA activated, catalytic polypeptide; mutation 14, Bruce Beutler
• MGI ID: MGI:6285200
• Synonyms: daffy
• Gene: Prkdc Location: Chr16:15455730-15660099 bp, + strand Genetic Position: Chr16, 10.09 cM, cytoband B1
• Alliance: Prkdc^m14Btlr page

Mutation origin

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

Mutation description

• Allele Type: Chemically induced (ENU) (Not Specified)
• Mutation: Single point mutation
• Mutation details: ENU-induced A to T transversion at base pair 15,829,697 (v38) on chromosome 16, or base pair 192,255 in the GenBank genomic region NC_000082 for Prkdc. The mutation corresponds to residue 11,007 in the mRNA sequence NM_011159 within exon 77 of 86 total exons. The mutation results in an isoleucine to phenylalanine substitution at position 3,662 (I3662F) in the DNA-PKCS protein. (J:272442)
• Inheritance: Recessive

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

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: 408 strains or lines available

Notes

https://mutagenetix.utsouthwestern.edu/phenotypic/phenotypic_rec.cfm?pk=3812

References

• Original: J:272442 Zhong X, et al., Mutagenetix entry for daffy. MGI Direct Data Submission. 2019
• All: 1 reference(s)