These mutant mice may be useful in studies of the immune system, cancer, tumor suppression, and DNA damage response pathways.
Junjie Chen, UTexas; M. D. Anderson Cancer Center
Genetic Background | Generation |
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Allele Type | Gene Symbol | Gene Name |
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Targeted (Null/Knockout) | Trp53bp1 | transformation related protein 53 binding protein 1 |
Homozygous "53BP1"-deficient mice are viable and fertile, but exhibit retarded growth and generate reduced litter sizes. Protein from the targeted gene is not detected in the testes (by immunoblot) or in mouse embryonic fibroblasts (MEFs) (by immunofluorescence). Homozygotes are immunocompromised, hypersensitive to whole-body irradiation, and develop thymic lymphomas with higher frequency (8%) compared to wildtype by 4-7 months of age. MEFs from homozygous mutant mice have a defective DNA damage response with impaired Chk2 activation. These mutant mice may be useful in studies of the immune system, cancer, tumor suppression, and DNA damage response pathways.
A targeting vector containing a neomycin resistance gene was used to replace the exon spanning nucleotides 3777 to 4048 of the endogenous gene. The construct was electroporated into "129/SvE"-derived embryonic stem (ES) cells. Correctly targeted ES cells were injected into C57BL/6 blastocysts and chimeric males were mated to C57BL/6 females. The resulting heterozygous mice were interbred for many generations prior to arrival at The Jackson Laboratory.
Allele Name | targeted mutation 1, Junjie Chen |
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Allele Type | Targeted (Null/Knockout) |
Allele Synonym(s) | 53BP1-; Trp53bp1delta |
Gene Symbol and Name | Trp53bp1, transformation related protein 53 binding protein 1 |
Gene Synonym(s) | |
Strain of Origin | 129 |
Chromosome | 2 |
Molecular Note | The gene was disrupted by replacement of an exon containing nucleotides 3777 - 4048 with a neomycin resistance cassette via homologous recombination. Absence of gene expression in homozygous mutant animals was confirmed by Western blot analysis using an antibody directed against the N-terminal portion of the protein. |
Mutations Made By | Kay Minn, Mayo Clinic College of Medicine |
When maintaining a live colony, homozygous mice are bred together. Homozygotes have an increased frequency (approximately 8%) of thymic tumors between 4-7 months of age.
When using the B6;129-Trp53bp1tm1Jc/J mouse strain in a publication, please cite the originating article(s) and include JAX stock #006495 in your Materials and Methods section.
Facility Barrier Level Descriptions
Service/Product | Description | Price |
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Heterozygous or wildtype for Trp53bp1<tm1Jc> |
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The Jackson Laboratory has rigorous genetic quality control and mutant gene genotyping programs to ensure the genetic background of JAX® Mice strains as well as the genotypes of strains with identified molecular mutations. JAX® Mice strains are only made available to researchers after meeting our standards. However, the phenotype of each strain may not be fully characterized and/or captured in the strain data sheets. Therefore, we cannot guarantee a strain's phenotype will meet all expectations. To ensure that JAX® Mice will meet the needs of individual research projects or when requesting a strain that is new to your research, we suggest ordering and performing tests on a small number of mice to determine suitability for your particular project. We do not guarantee breeding performance and therefore suggest that investigators order more than one breeding pair to avoid delays in their research.
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