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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Prkdctm1.1Bpcc
targeted mutation 1.1, Benjamin P C Chen
MGI:4950416
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Prkdctm1.1Bpcc/Prkdctm1.1Bpcc involves: 129 * C57BL/6 MGI:4950418
ht2
Prkdctm1.1Bpcc/Prkdc+ involves: 129 * C57BL/6 MGI:4950419


Genotype
MGI:4950418
hm1
Allelic
Composition
Prkdctm1.1Bpcc/Prkdctm1.1Bpcc
Genetic
Background
involves: 129 * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Prkdctm1.1Bpcc mutation (0 available); any Prkdc mutation (408 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• highly sensitive to radiation treatment
• about 75% of mice die by 4 weeks of age
• only 1 of 56 mice survived past 12 weeks of age
• bone marrow transplant from wild-type littermates at 2 weeks of age rescues much of the lethality
• about 75% of mice die by 4 weeks of age

hematopoietic system
• increase in nucleotide loss during coding joint formation similar to mice homozygous for Prkdcscid
• apparent arrest at the pro-B cell stage
• generalized decrease in the number of leukocytes
• average number of nucleated cells is reduced at 2 weeks of age
• in the peripheral blood
• in the peripheral blood
• in the peripheral blood
• in the bone marrow
• drastically reduced lymphocyte numbers at 2 weeks of age
• few mature B cells are found in the spleen
• unlike in null mice, double positive and single positive T cells are present although in reduced numbers
• decrease in the number of cells expressing TCRB
• severe reduction of double-negative thymocytes at different developmental stages
• in the bone marrow
• decrease in the number of (Lin-Sca-1+c-Kit+ (LSK) cells in the liver at E14.5
• severe reduction (100 fold) in the number of bone marrow LSK cells at P1
• near ablation of bone marrow LSK cells at 2 weeks of age
• in the peripheral blood beginning at 2 weeks of age
• bone marrow transplant from wild-type littermates at 2 weeks rescues pancytopenia
• cells isolated at E12.5 proliferate normally for 24h then slow down and collapse due to massive cell death by 72h in culture
• fetal liver LSK cells are unable to repopulate in vivo
• fetal liver LSK cells show an increase in spontaneous DNA lesions and apoptosis

cellular
• MEFs display increased sensitivity to replication stress inducers, including UV irradiation, camptothecin, and mitomycin C
• most striking response is to mitomycin C
• highly sensitive to radiation treatment
• MEFs are hypersensitive to ionizing radiation induced cell death
• expression analysis in MEFs following DNA damage indicates abnormalities in the homologous recombination/Fanconi anemia pathway

growth/size/body
• become apparently smaller within 2?3 weeks of birth
• bone marrow transplant from wild-type littermates at 2 weeks of age improves growth

immune system
• increase in nucleotide loss during coding joint formation similar to mice homozygous for Prkdcscid
• apparent arrest at the pro-B cell stage
• in the peripheral blood
• in the bone marrow
• drastically reduced lymphocyte numbers at 2 weeks of age
• few mature B cells are found in the spleen
• unlike in null mice, double positive and single positive T cells are present although in reduced numbers
• decrease in the number of cells expressing TCRB
• severe reduction of double-negative thymocytes at different developmental stages
• in the bone marrow
• drastically attenuated at 2 weeks of age

integument
• ears, paws, and internal organs appear pale suggesting anemia

digestive/alimentary system

homeostasis/metabolism
• expression analysis in MEFs following DNA damage indicates abnormalities in the homologous recombination/Fanconi anemia pathway
• highly sensitive to radiation treatment

pigmentation
• hyperpigmentation of the footpad and tail apparent by 1 week of age




Genotype
MGI:4950419
ht2
Allelic
Composition
Prkdctm1.1Bpcc/Prkdc+
Genetic
Background
involves: 129 * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Prkdctm1.1Bpcc mutation (0 available); any Prkdc mutation (408 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
pigmentation
• mild hyperpigmentation of the footpad in mice over 2 months of age





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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
05/07/2024
MGI 6.23
The Jackson Laboratory