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Prkdctm1.1Bpcc
Targeted Allele Detail
Summary
Symbol: Prkdctm1.1Bpcc
Name: protein kinase, DNA activated, catalytic polypeptide; targeted mutation 1.1, Benjamin P C Chen
MGI ID: MGI:4950416
Synonyms: DNA-PKcs3A
Gene: Prkdc  Location: Chr16:15455730-15660099 bp, + strand  Genetic Position: Chr16, 10.09 cM, cytoband B1
Alliance: Prkdctm1.1Bpcc page
Activation of p53 in the intestinal crypt and epidermis in Prkdctm1.1Bpcc/ Prkdctm1.1Bpcc (DNA-PKcs3A/3A) mice

Show the 1 phenotype image(s) involving this allele.

Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:171351
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  Not Specified
Mutation
description
Allele Type:    Targeted
Mutation:    Nucleotide substitutions
 
Mutation detailsThree alanine substitutions at Thr2605, Thr2634, and Thr2643 in exon 58 and a self-excising ACN cassette were inserted via homologous recombination. The ACN cassette was removed by cre mediated recombination in the male germline leaving a single loxP site in intron 58. Analysis of whole cell lysates of homozygous MEFs indicates protein expression is not significantly different from the wild-type allele. Kinase activity of the mutant allele is not significantly different from the wild-type allele. The 3 alanine substitutions are in a threonine phosphorylation cluster. (J:171351)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
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:  417 strains or lines available
References
Original:  J:171351 Zhang S, et al., Congenital bone marrow failure in DNA-PKcs mutant mice associated with deficiencies in DNA repair. J Cell Biol. 2011 Apr 18;193(2):295-305
All:  1 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory