Mouse Genome Informatics
hm
    Atmtm1Fwa/Atmtm1Fwa
involves: 129S4/SvJae * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
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
• approximately a 20% reduction in body weight is observed

tumorigenesis
• 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
(J:61201)

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

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