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Phenotypes Associated with This Genotype
Genotype
MGI:2175708
Allelic
Composition
Atmtm1Led/Atmtm1Led
Genetic
Background
involves: 129S6/SvEvTac * Black Swiss
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atmtm1Led mutation (0 available); any Atm mutation (170 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Cross section through seminiferous tubule of +/+ and Atmtm1Led/Atmtm1Led mice

mortality/aging
• 100% mortality by 40 weeks of age

growth/size/body

immune system
• mostly of double positive T cells
• fourfold decrease in CD4+CD8- single positive cells

reproductive system
• lack of maturing sperm within the seminiferous tubules and of mature sperm in the tubule lumen, the epididymis, and ductus deferens
• testes were structurally abnormal

neoplasm
• mostly of double positive T cells
• some develop malignant thymomas between 3 and 4 months of age

cellular
• lack of maturing sperm within the seminiferous tubules and of mature sperm in the tubule lumen, the epididymis, and ductus deferens
• 3 fold increase in radiation induced chromosomal aberrations
• increased sensitivity of thymocytes and splenocytes to ionizing radiation
• fibroblasts exhibited nearly 6.5-fold more chromosomal breaks per metaphase than controls

nervous system
• survival of Purkinje cells in culture less than 60% of controls at 4 days and about 40% at 10 days
• survival of cultured cells improves if cultured with cerebellar astroglial cell
• develop simpler dendritic arboritization with reduced secondary branching
• nitroxide free radicals improve survival and arborization

endocrine/exocrine glands
• mostly of double positive T cells
• testes were structurally abnormal

hematopoietic system
• mostly of double positive T cells
• fourfold decrease in CD4+CD8- single positive cells

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
ataxia telangiectasia DOID:12704 OMIM:208900
J:36561


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
10/29/2024
MGI 6.24
The Jackson Laboratory