About   Help   FAQ
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 (417 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 (417 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





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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
11/12/2024
MGI 6.24
The Jackson Laboratory