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Phenotypes Associated with This Genotype
Genotype
MGI:2175707
Allelic
Composition
Atmtm1Fwa/Atmtm1Fwa
Genetic
Background
involves: 129S4/SvJae * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atmtm1Fwa mutation (1 available); any Atm mutation (81 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Dendritic changes in Purkinje cells of Atmtm1Fwa/Atmtm1Fwa mice

mortality/aging
• death in mice carrying thymic lymphomas occcurs by 4-5 months of age
• 50% of mice survive 10 months or more

growth/size/body
• approximately a 20% reduction in body weight is observed

neoplasm
• T cell-derived lymphomas frequently resulted in premature death

immune system
• only 40-50% of the normal levels of thymocytes and splenocytes are seen
• reduced numbers of immature B cells in bone marrow
• reduced numbers of precursor B cells in bone marrow
• mature B cell numbers are similar to controls
• 8-10 fold reduction in splenic T cell numbers
• 2-fold decrease in double positive and a 5-fold decrease in single positive thymocytes
• only 40-50% of the normal levels of splenocytes are seen

behavior/neurological
• mice do not exhibit improvement over time on the accelerating rotarod test
• adult mice tend to explore an open field less than controls

nervous system
• Purkinje cell axons exhibit varicosities in the internal granule cell layer; however, these swellings are small and unlike the large axonal swellings seen in human Ataxia-Telangiectasia patients
• irregular pattern of dendrites; consistently branch prematurely and have multiple dendrites originating from one cell body
• dendrites often project at odd angles in the molecular layer
• Purkinje cell bodies are seen in the molecular layer
• the cerebellum molecular layer is approximately 13% thinner than controls

reproductive system

cellular
• homozygous cells were hypersensitive to irradiation (data not shown)

hematopoietic system
• only 40-50% of the normal levels of thymocytes and splenocytes are seen
• reduced numbers of immature B cells in bone marrow
• reduced numbers of precursor B cells in bone marrow
• mature B cell numbers are similar to controls
• 8-10 fold reduction in splenic T cell numbers
• 2-fold decrease in double positive and a 5-fold decrease in single positive thymocytes
• only 40-50% of the normal levels of splenocytes are seen

endocrine/exocrine glands
• 2-fold decrease in double positive and a 5-fold decrease in single positive thymocytes
• T cell-derived lymphomas frequently resulted in premature death

Mouse Models of Human Disease
OMIM ID Ref(s)
Ataxia-Telangiectasia; AT 208900 J:61201


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
06/22/2016
MGI 6.04
The Jackson Laboratory