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Phenotypes Associated with This Genotype
Genotype
MGI:3833153
Allelic
Composition
Brca2tm1Kamc/Brca2tm1Kamc
Genetic
Background
involves: 129P2/OlaHsd * BALB/c
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Brca2tm1Kamc mutation (1 available); any Brca2 mutation (92 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• all mice die within 5 to 9 days of exposure to a dose at which 90% of wild-type mice survive

hematopoietic system
• unlike in wild-type mice, wild-type transplanted cells engraft and reconstitute close to 45% after 6 months
• colony forming cells are decreased 25% to 50% in the bone marrow and spleen of adult and 1.5 week old mice compared to in wild-type mice
• only 12% of bone marrow cells form large colonies compared to 45% of wild-type cells
• the reduction in colony forming cells is more marked as length of incubation in culture is increased
• following whole body irradiation, mice exhibit leukopenia, anemia, and thrombopenia that are more severe and last longer than in similarly treated wild-type mice
• when subjected to a competitive repopulation assay, bone marrow cells exhibit reduced hematopoiesis compared to wild-type cells
• bone marrow cells maintained under physiological steady-state conditions exhibit impaired hematopoiesis compared to wild-type cells
• femoral bone marrow cellularity is slightly reduced compared to in wild-type mice
• however, this decrease may reflect the decrease in body weight
• spleen cellularity is slightly reduced compared to in wild-type mice
• however, this decrease may reflect the decrease in body weight

cellular
• bone marrow cells exhibit a high number of spontaneous chromatid breaks compared to wild-type cells
• bone marrow cells exposed to 30 nM mitomycin C exhibit more chromatid breaks that similarly treated wild-type cells
• colony forming cells are more sensitive to mitomycin C than wild-type cells
• however, dosage values for X-ray exposed cells is normal, and cells from mice transplanted with wild-type cells exhibit a partial rescue of mitomycin C sensitivity
• no Rad51 foci are apparent in fibroblasts exposed to 12 Gy radiation unlike in similarly treated wild-type cells

growth/size/body

immune system
• spleen cellularity is slightly reduced compared to in wild-type mice
• however, this decrease may reflect the decrease in body weight

homeostasis/metabolism
• no Rad51 foci are apparent in fibroblasts exposed to 12 Gy radiation unlike in similarly treated wild-type cells
• all mice die within 5 to 9 days of exposure to a dose at which 90% of wild-type mice survive

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Fanconi anemia complementation group D1 DOID:0111089 OMIM:605724
J:144998


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
11/21/2023
MGI 6.22
The Jackson Laboratory