About   Help   FAQ
Phenotypes Associated with This Genotype
Genotype
MGI:2175703
Allelic
Composition
Atmtm1Awb/Atmtm1Awb
Genetic
Background
either: 129S6/SvEvTac-Atmtm1Awb or (involves: 129S6/SvEvTac * NIH Black Swiss)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atmtm1Awb mutation (7 available); any Atm mutation (89 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Oxidated stress in the brain of Atmtm1Awb/Atmtm1Awb mice indicated by increased levels of heme oxygenase

mortality/aging
• mutant mice die from radiation induced toxicity to the gastrointestinal tract at doses that do not kill control mice
• many mice die from thymic lymphoma; none survived greater than 4.5 months of age without a thymic lymphoma

growth/size/body
• homozygotes appear smaller at birth
• female and male homozygotes weigh less that control littermates from P8 to 3 months of age

immune system
N
• no abnormalities in B lymphocytes, granulocytes or myeloid cells observed
• increased number of immature double positive cells
• reduced number of mature single-positive Cd4+ and Cd8+ T lymphocytes
• 59% reduction in Cd3/Cd4 double positive T lymphocytes
• 67% reduction in Cd3/Cd8 double positive T lymphocytes
• reduction in Cd5, Cd4, and Cd8 positive T lymphocytes
• using Cd69 as a marker of activation, the number of Cd3/Cd69 or Cd8/Cd69 positive cells is reduced, but still present

reproductive system
• absence of primordial and mature ovarian follicles
• no proliferation or degeneration in as part of the estrous cycle
• complete absence of mature gametes
• absence of mature sperm
• reduced number of cells
• degeneration of cells evident
• some barren of all cells except Sertoli cells
• females never enter estrous
• females never exhibit copulation plugs
• normal mating behavior evident by the presence of copulation plugs in control females; however, pregnancy never results

neoplasm
• thymic lymphomas are highly metastatic and consist of immature T cells

cellular
• complete absence of mature gametes
• absence of mature sperm
• significant increase in the number of lysosomes in cerebellar Purkinje cells and in pyramidal cells of the hippocampus in the absence of any neuronal degeneration at 4-12 weeks of age, before the onset of T cell lymphoma
• mutant fibroblasts show increased radioresistant DNA synthesis (RDS) after 5 to 15 Gy of gamma-irradiation compared to controls, indicating that cell cycle checkpoints are abnormal
• mutant fibroblasts grew more slowly in culture than control cells
• tissues from mutants are under oxidative stress and suffer oxidative damage, especially in the brain
• oxidative damage to proteins and lipids as indicated by elevated nitrotyrosine levels in the brain (but not the liver) and elevated F2-isoprostanes in the testes (indicative of lipid damage)
• activity of the isozyme, heme oxygenase, is increased 600% in the cerebellum (but not in the cortex)

behavior/neurological
• mutant mice were not able to stay on a rota-rod as long as controls
• impaired performance was not due to decreased strength since mice were able to suspend from a wire lid as long as controls
• mutant mice reared less often than controls
• reduced horizontal activity was shown by reduced movement around an open field
• in addition, the maximum difference in stride lengths was greater in mutant mice, suggestive of ataxia

nervous system
N
• no defects in brain architecture
• no evidence of neurodegeneration
• heme oxygenase 1 is increase in Purkinje cells, indicating oxidative damage particularly in these cells

hematopoietic system
• increased number of immature double positive cells
• reduced number of mature single-positive Cd4+ and Cd8+ T lymphocytes
• 59% reduction in Cd3/Cd4 double positive T lymphocytes
• 67% reduction in Cd3/Cd8 double positive T lymphocytes
• reduction in Cd5, Cd4, and Cd8 positive T lymphocytes
• using Cd69 as a marker of activation, the number of Cd3/Cd69 or Cd8/Cd69 positive cells is reduced, but still present

endocrine/exocrine glands
• absence of primordial and mature ovarian follicles
• reduced number of cells
• degeneration of cells evident
• some barren of all cells except Sertoli cells
• thymic lymphomas are highly metastatic and consist of immature T cells

homeostasis/metabolism
• mutant mice die from radiation induced toxicity to the gastrointestinal tract at doses that do not kill control mice

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
ataxia telangiectasia DOID:12704 OMIM:208900
J:34193 , J:57115


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
05/16/2017
MGI 6.09
The Jackson Laboratory