Prkdc^tm5.1Shzh
Targeted Allele Detail

Summary

• Symbol: Prkdc^tm5.1Shzh
• Name: protein kinase, DNA activated, catalytic polypeptide; targeted mutation 5.1, Shan Zha
• MGI ID: MGI:8422512
• Synonyms: DNA-PKcs^5A
• Gene: Prkdc Location: Chr16:15455730-15660099 bp, + strand Genetic Position: Chr16, 10.09 cM, cytoband B1
• Alliance: Prkdc^tm5.1Shzh page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:287062
• Parent Cell Line: Other (see notes) (ES Cell)
• Strain of Origin: 129

Mutation description

• Allele Type: Targeted (Not Applicable)
• Mutation: Nucleotide substitutions
• Mutation details:

  Threonine codons 2605 (ACC), 2614 (ACC), 2616 (ACC), 2634 (ACC) and 2643 (ACA) in exon 58 were changed to alanine (p.T2605A, p.T2614A, p.T2616A, p.T2634A, p.T2643A) and an FRT site flanked neomycin resistance gene cassette was inserted into intron 57. The neo cassette was removed through subsequent Flp-mediated recombination. In the encoded protein, the mutations change phosphorylatable residues into ones that cannot be phosphorylated. The mutations impairs ribosome biogenesis, which affects hematopoiesis. (J:287062)

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: 394 strains or lines available

References

• Original: J:287062 Shao Z, et al., DNA-PKcs has KU-dependent function in rRNA processing and haematopoiesis. Nature. 2020 Mar;579(7798):291-296
• All: 2 reference(s)