Phenotypes associated with this allele
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atmtm1Fwa mutation
(2 available);
any
Atm mutation
(169 available)
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mortality/aging
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N |
• mice are born in Mendelian ratios
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cellular
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• embryonic stem cells exhibit increased spontaneous cytogenetic abnormalities (predominantly chromosome breaks) compared with wild-type cells
• B cells from tamoxifen-treated mice exhibit reduced class switch recombination with increased genomic instability compared with wild-type cells
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immune system
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• B cells from tamoxifen-treated mice exhibit reduced class switch recombination with increased genomic instability compared with wild-type cells
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hematopoietic system
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• B cells from tamoxifen-treated mice exhibit reduced class switch recombination with increased genomic instability compared with wild-type cells
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atmtm1Fwa mutation
(2 available);
any
Atm mutation
(169 available)
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Dendritic changes in Purkinje cells of Atmtm1Fwa/Atmtm1Fwa mice
mortality/aging
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• death in mice carrying thymic lymphomas occcurs by 4-5 months of age
• 50% of mice survive 10 months or more
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growth/size/body
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• approximately a 20% reduction in body weight is observed
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neoplasm
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• T cell-derived lymphomas frequently resulted in premature death
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immune system
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• only 40-50% of the normal levels of thymocytes and splenocytes are seen
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• reduced numbers of immature B cells in bone marrow
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• reduced numbers of precursor B cells in bone marrow
• mature B cell numbers are similar to controls
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• 8-10 fold reduction in splenic T cell numbers
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• 2-fold decrease in double positive and a 5-fold decrease in single positive thymocytes
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• only 40-50% of the normal levels of splenocytes are seen
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behavior/neurological
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• mice do not exhibit improvement over time on the accelerating rotarod test
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• adult mice tend to explore an open field less than controls
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nervous system
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• 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
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• 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
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• Purkinje cell bodies are seen in the molecular layer
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• the cerebellum molecular layer is approximately 13% thinner than controls
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reproductive system
cellular
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• homozygous cells were hypersensitive to irradiation (data not shown)
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hematopoietic system
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• only 40-50% of the normal levels of thymocytes and splenocytes are seen
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• reduced numbers of immature B cells in bone marrow
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• reduced numbers of precursor B cells in bone marrow
• mature B cell numbers are similar to controls
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• 8-10 fold reduction in splenic T cell numbers
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• 2-fold decrease in double positive and a 5-fold decrease in single positive thymocytes
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• only 40-50% of the normal levels of splenocytes are seen
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endocrine/exocrine glands
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• 2-fold decrease in double positive and a 5-fold decrease in single positive thymocytes
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• T cell-derived lymphomas frequently resulted in premature death
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atmtm1Fwa mutation
(2 available);
any
Atm mutation
(169 available)
H2axtm1Fwa mutation
(0 available);
any
H2ax mutation
(7 available)
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mortality/aging
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• because the two genes are 4 cm apart, the cross of heterozygote parents resulted in a 4% cross-over frequency of which half (2%) of the cross-overs had the two null alleles linked
• breeding of these progeny resulted in embryonic lethality in the double homozygotes
• half the embryos are dead at E11.5 and all embryos dead by E12.5
• embryos had pleiotropic developmental defects associated with increased cell death and decreased mitotic index
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cellular
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• freshly isolated E10.5 MEFs have a dramatic increase in the sub-G1 population, indicative of massive cell death
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• 80% of E10.5 MEFs have cytogenetic abnormalities compared to 2-3% in wild-type controls
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• MEF metaphases contained numerous breaks per metaphase (average more than three abnormalities per abnormal metaphase), in contrast to one or, rarely, two aberrations per abnormal metaphase for controls
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atmtm1Fwa mutation
(2 available);
any
Atm mutation
(169 available)
Pknox1tm1Fbla mutation
(0 available);
any
Pknox1 mutation
(90 available)
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atmtm1Fwa mutation
(2 available);
any
Atm mutation
(169 available)
Pknox1tm1Fbla mutation
(0 available);
any
Pknox1 mutation
(90 available)
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mortality/aging
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• only one mouse is recovered at E7.5
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embryo
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• in the single mouse generated
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• at E7.5, Oct4+ cells are almost undetectable in the single mouse generated
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growth/size/body
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• in the single mouse generated
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Analysis Tools
