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Phenotypes Associated with This Genotype
Genotype
MGI:2675319
Allelic
Composition
Nbntm1Xu/Nbntm1Xu
Genetic
Background
Not Specified
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nbntm1Xu mutation (0 available); any Nbn mutation (40 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
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
• 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
• 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
• ovaries are degenerated
• lymphomas are mostly of CD4+CD8+ immature thymocyte origin and are composed of large sized lymphoblasts

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


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
10/08/2019
MGI 6.14
The Jackson Laboratory