Phenotypes Associated with This Genotype

Genotype
MGI:6110012

• Allelic Composition: Atm^tm1.1Mmpl/Atm^tm1.1Mmpl
• Genetic Background: involves: 129S4/SvJaeSor * 129S6/SvEvTac * C57BL/6J

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

lethality, incomplete penetrance ( J:226414 )

• 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

ataxia ( J:226414 )

• 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

decreased sensitivity to induced cell death ( J:226414 )

• 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

decreased cell proliferation ( J:226414 )

• fibroblasts grown in culture proliferate at a reduced rate compared to controls

• however, oxidative stress is not seen

abnormal DNA repair ( J:226414 )

• fibroblasts exhibit an altered DNA damage response

endocrine/exocrine glands

increased T cell derived lymphoma incidence ( J:226414 )

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

hematopoietic system

increased T cell derived lymphoma incidence ( J:226414 )

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

increased B cell number ( J:226414 )

• increase in the percentage of B cells within the circulating lymphocyte populations at 2 and 5 months of age

decreased T cell number ( J:226414 )

• reduction in the percentage of T-cell subsets within the circulating lymphocyte population at 2 and 5 months of age

homeostasis/metabolism

abnormal DNA repair ( J:226414 )

• fibroblasts exhibit an altered DNA damage response

immune system

increased T cell derived lymphoma incidence ( J:226414 )

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

increased B cell number ( J:226414 )

• increase in the percentage of B cells within the circulating lymphocyte populations at 2 and 5 months of age

decreased T cell number ( J:226414 )

• reduction in the percentage of T-cell subsets within the circulating lymphocyte population at 2 and 5 months of age

neoplasm

increased T cell derived lymphoma incidence ( J:226414 )

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

nervous system

nervous system phenotype ( J:226414 )

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