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Phenotypes Associated with This Genotype
Genotype
MGI:6110012
Allelic
Composition
Atmtm1.1Mmpl/Atmtm1.1Mmpl
Genetic
Background
involves: 129S4/SvJaeSor * 129S6/SvEvTac * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atmtm1.1Mmpl mutation (0 available); any Atm mutation (125 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• slightly fewer (20.6%) than the expected (25%) numbers of mice are obtained, indicating a low rate of embryonic lethality or reduced postnatal viability

behavior/neurological
• mice exhibit an overall increase in the foot spacing consistent with a wide-spaced ataxic gait
• mice show a decrease in the stance time of all 4 limbs of locomotion and a trend toward increased front and rear paw swing time at 3 months of age
• however, mice exhibit normal performance on the rotarod at 4, 7, and 9 months of age

cellular
• fibroblasts exhibit an altered DNA damage response
• cerebellar granule neurons show decreased susceptibility to radiomimetic-induced cell death, with more surviving cerebellar granule cells in cultures 20 hours after addition of doxorubicin
• fibroblasts grown in culture proliferate at a reduced rate compared to controls
• however, oxidative stress is not seen

endocrine/exocrine glands
• mice rarely develop thymic lymphomas or other cancers, with 8% of mice succumbing to thymic lymphomas

hematopoietic system
• increase in the percentage of B cells within the circulating lymphocyte populations at 2 and 5 months of age
• reduction in the percentage of T-cell subsets within the circulating lymphocyte population at 2 and 5 months of age

homeostasis/metabolism
• fibroblasts exhibit an altered DNA damage response

immune system
• increase in the percentage of B cells within the circulating lymphocyte populations at 2 and 5 months of age
• reduction in the percentage of T-cell subsets within the circulating lymphocyte population at 2 and 5 months of age

neoplasm
• mice rarely develop thymic lymphomas or other cancers, with 8% of mice succumbing to thymic lymphomas

nervous system
N
• no cellular defects are seen in the cerebellum

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
ataxia telangiectasia DOID:12704 OMIM:208900
J:226414


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
01/18/2022
MGI 6.17
The Jackson Laboratory