Mouse Genome Informatics
hm
    Brca2tm1Kamc/Brca2tm1Kamc
involves: 129P2/OlaHsd * BALB/c
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
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
• no Rad51 foci are apparent in fibroblasts exposed to 12 Gy radiation unlike in 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

growth/size

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

Mouse Models of Human Disease
OMIM IDRef(s)
Fanconi Anemia, Complementation Group D1; FANCD1 605724 J:144998