mortality/aging
• homozygotes all die by 10 days after gamma-irradiation while controls survive for at least 2 months
|
growth/size/body
• body weight is 77% of that of controls
|
immune system
• thymus cellularity is about 30% of that of controls
|
• lymphomas are mostly of CD4+CD8+ immature thymocyte origin and are composed of large sized lymphoblasts
|
• reduction in mature B cells in the peripheral lymphoid organs
|
• reduction in the numbers of B220+IgM- pre-B cells
|
• reduction in mature T cells in the peripheral lymphoid organs
|
• more than 5-fold reduction in the number of CD4+ thymocytes
|
• severely defective in the T-dependent antibody response, however IgG levels are normal indicating no defects in class switching in B cells
|
reproductive system
• ovaries lack any oocytes
|
• ovaries are degenerated
|
• females are sterile, however males are fertile and have normal spermatogenesis
|
cellular
• ovaries lack any oocytes
|
• MEFs are impaired in G1/S transition during cellular proliferation
• ES cells undergo prolonged G2 accumulation and increased radio-resistant DNA synthesis after gamma-irradiation
|
• ES cells are hypersensitive to gamma-irradiation
|
• MEFs proliferate slower than controls with a lower saturation density and undergo premature senescence at high passage
|
neoplasm
• lymphomas are mostly of CD4+CD8+ immature thymocyte origin and are composed of large sized lymphoblasts
|
hematopoietic system
• thymus cellularity is about 30% of that of controls
|
• lymphomas are mostly of CD4+CD8+ immature thymocyte origin and are composed of large sized lymphoblasts
|
• reduction in mature B cells in the peripheral lymphoid organs
|
• reduction in the numbers of B220+IgM- pre-B cells
|
• reduction in mature T cells in the peripheral lymphoid organs
|
• more than 5-fold reduction in the number of CD4+ thymocytes
|
endocrine/exocrine glands
• thymus cellularity is about 30% of that of controls
|
• lymphomas are mostly of CD4+CD8+ immature thymocyte origin and are composed of large sized lymphoblasts
|
• ovaries are degenerated
|
nervous system
N |
• no abnormalities in the development of the CNS and no microencephaly
|
homeostasis/metabolism
• homozygotes all die by 10 days after gamma-irradiation while controls survive for at least 2 months
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
Nijmegen breakage syndrome | DOID:7400 |
OMIM:251260 |
J:75272 |