Phenotypes Associated with This Genotype

Genotype
MGI:2175710

• Allelic Composition: Atm^tm1Pmc/Atm^tm1Pmc
• Genetic Background: involves: 129X1/SvJ * C57BL/6

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

cellular

decreased cellular sensitivity to ionizing radiation ( J:47752 )

• ionizing radiation fails to induce cell death; irradiation-induced cell death is almost absent in the hippocampal dentate gyrus, cerebellum, and cerebral cortex compared to wild-type

• only occasional dead cells are found in the external granule layer of the cerebellum whereas widespread cell death is observed in wild-type after irradiation

• in the retina no apoptosis is seen in the center of the retina compared to wild-type, but apoptosis occurs in the periphery of the irradiated retina of mutant and wild-type mice

• cell death in the subventricular zone after irradiation is present but reduced compared to wild-type

reproductive system

infertility ( J:47752 )

• mice are sterile

neoplasm

increased lymphoma incidence ( J:47752 )

• mice are prone to lymphoma

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
ataxia telangiectasia		DOID:12704	OMIM:208900	J:47752