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Phenotypes Associated with This Genotype
Genotype
MGI:2181774
Allelic
Composition
Atmtm1Mfl/Atmtm1Mfl
Genetic
Background
involves: 129T2/SvEms * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atmtm1Mfl mutation (3 available); any Atm mutation (170 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• 50% mortality by 40 weeks of age

growth/size/body
• smaller size persists through adulthood
• 20% growth reduction in males and 18% reduction in females from birth to 45 days of age
• usually found in mice dying after 40 weeks of age

neoplasm
• mice dying after 40 weeks of age usually have tumors that are not thymic lymphomas
• found in all mice dying before 40 weeks
• diverse cell types involved
• spongy tumors with a high proportion of cells undergoing apoptosis

immune system
• occasional increase in thymocyte size
• lymph node T cells are primarily at early stages of development
• randomly observed increases in single positive T cells
• 10% reduction in thymocytes
• 30-50% reduction in thymocytes expressing alpha and beta T cell receptors or CD3
• found in all mice dying before 40 weeks
• diverse cell types involved
• spongy tumors with a high proportion of cells undergoing apoptosis
• usually found in mice dying after 40 weeks of age
• in mice under 40 weeks of age

cellular
• loss of spermatids
• degenerating spermatocytes
• 3 fold increase in radiation induced chromosomal aberrations
• increased sensitivity of thymocytes and splenocytes to ionizing radiation
• disrupted
• lack of maturing follicles and oocytes

reproductive system
• tubules disrupted
• poorly developed
• disrupted
• lack of maturing follicles and oocytes
• disrupted spermatogenesis
• loss of spermatids
• degenerating spermatocytes

nervous system
N
• no gross neuronal degeneration at time points between 2 and 16 months of age
• survival of Purkinje cells in culture less than 60% of controls at 4 days and about 40% at 10 day
• survival of cultured cells improves if cultured with cerebellar astroglial cells
• develop simpler dendritic arboritization with reduced secondary branching
• nitroxide free radicals improve survival and arborization

endocrine/exocrine glands
• 10% reduction in thymocytes
• 30-50% reduction in thymocytes expressing alpha and beta T cell receptors or CD3
• found in all mice dying before 40 weeks
• diverse cell types involved
• spongy tumors with a high proportion of cells undergoing apoptosis
• tubules disrupted
• poorly developed

hematopoietic system
• 10% reduction in thymocytes
• 30-50% reduction in thymocytes expressing alpha and beta T cell receptors or CD3
• found in all mice dying before 40 weeks
• diverse cell types involved
• spongy tumors with a high proportion of cells undergoing apoptosis
• usually found in mice dying after 40 weeks of age
• lymph node T cells are primarily at early stages of development
• randomly observed increases in single positive T cells
• in mice under 40 weeks of age

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
ataxia telangiectasia DOID:12704 OMIM:208900
J:69726


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
11/12/2024
MGI 6.24
The Jackson Laboratory