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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Atmtm1Fwa
targeted mutation 1, Frederick W Alt
MGI:1933748
Summary 5 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Atmtm1Fwa/Atmtm1Fwa involves: 129S4/SvJae MGI:5463808
hm2
Atmtm1Fwa/Atmtm1Fwa involves: 129S4/SvJae * C57BL/6 MGI:2175707
cx3
Atmtm1Fwa/Atmtm1Fwa
H2afxtm1Fwa/H2afxtm1Fwa
involves: 129S4/SvJae * 129S6/SvEvTac MGI:3851149
cx4
Atmtm1Fwa/Atmtm1Fwa
Pknox1tm1Fbla/Pknox1+
involves: 129S4/SvJae * C57BL/6 MGI:4839470
cx5
Atmtm1Fwa/Atmtm1Fwa
Pknox1tm1Fbla/Pknox1tm1Fbla
involves: 129S4/SvJae * C57BL/6 MGI:4839471


Genotype
MGI:5463808
hm1
Allelic
Composition
Atmtm1Fwa/Atmtm1Fwa
Genetic
Background
involves: 129S4/SvJae
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atmtm1Fwa mutation (1 available); any Atm mutation (30 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
N
• mice are born in Mendelian ratios (J:191288)
• mice are born in Mendelian ratios (J:191288)

cellular
• embryonic stem cells exhibit increased spontaneous cytogenetic abnormalities (predominantly chromosome breaks) compared with wild-type cells (J:191288)
• B cells from tamoxifen-treated mice exhibit reduced class switch recombination with increased genomic instability compared with wild-type cells (J:191288)
• embryonic stem cells exhibit increased spontaneous cytogenetic abnormalities (predominantly chromosome breaks) compared with wild-type cells (J:191288)
• B cells from tamoxifen-treated mice exhibit reduced class switch recombination with increased genomic instability compared with wild-type cells (J:191288)

immune system
• B cells from tamoxifen-treated mice exhibit reduced class switch recombination with increased genomic instability compared with wild-type cells (J:191288)
• B cells from tamoxifen-treated mice exhibit reduced class switch recombination with increased genomic instability compared with wild-type cells (J:191288)

hematopoietic system
• B cells from tamoxifen-treated mice exhibit reduced class switch recombination with increased genomic instability compared with wild-type cells (J:191288)
• B cells from tamoxifen-treated mice exhibit reduced class switch recombination with increased genomic instability compared with wild-type cells (J:191288)




Genotype
MGI:2175707
hm2
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 (30 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 (J:61201)
• 50% of mice survive 10 months or more (J:61201)
• death in mice carrying thymic lymphomas occcurs by 4-5 months of age (J:61201)
• 50% of mice survive 10 months or more (J:61201)

growth/size/body
• approximately a 20% reduction in body weight is observed (J:61201)
• approximately a 20% reduction in body weight is observed (J:61201)

tumorigenesis
• T cell-derived lymphomas frequently resulted in premature death (J:61201)
• T cell-derived lymphomas frequently resulted in premature death (J:61201)

immune system
• only 40-50% of the normal levels of thymocytes and splenocytes are seen (J:61201)
• only 40-50% of the normal levels of thymocytes and splenocytes are seen (J:61201)
• reduced numbers of immature B cells in bone marrow (J:61201)
• reduced numbers of immature B cells in bone marrow (J:61201)
• reduced numbers of precursor B cells in bone marrow (J:61201)
• mature B cell numbers are similar to controls (J:61201)
• reduced numbers of precursor B cells in bone marrow (J:61201)
• mature B cell numbers are similar to controls (J:61201)
• 8-10 fold reduction in splenic T cell numbers (J:61201)
• 8-10 fold reduction in splenic T cell numbers (J:61201)
• 2-fold decrease in double positive and a 5-fold decrease in single positive thymocytes (J:61201)
• 2-fold decrease in double positive and a 5-fold decrease in single positive thymocytes (J:61201)
• only 40-50% of the normal levels of splenocytes are seen (J:61201)
• only 40-50% of the normal levels of splenocytes are seen (J:61201)

behavior/neurological
• mice do not exhibit improvement over time on the accelerating rotarod test (J:61201)
• mice do not exhibit improvement over time on the accelerating rotarod test (J:61201)
• adult mice tend to explore an open field less than controls (J:61201)
• adult mice tend to explore an open field less than controls (J:61201)

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 (J:61201)
• 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 (J:61201)
• irregular pattern of dendrites; consistently branch prematurely and have multiple dendrites originating from one cell body (J:61201)
• dendrites often project at odd angles in the molecular layer (J:61201)
• irregular pattern of dendrites; consistently branch prematurely and have multiple dendrites originating from one cell body (J:61201)
• dendrites often project at odd angles in the molecular layer (J:61201)
• Purkinje cell bodies are seen in the molecular layer (J:61201)
• Purkinje cell bodies are seen in the molecular layer (J:61201)
• the cerebellum molecular layer is approximately 13% thinner than controls (J:61201)
• the cerebellum molecular layer is approximately 13% thinner than controls (J:61201)

reproductive system
(J:61201)
(J:61201)
(J:61201)
(J:61201)

cellular
• homozygous cells were hypersensitive to irradiation (data not shown) (J:61201)
• homozygous cells were hypersensitive to irradiation (data not shown) (J:61201)

hematopoietic system
• only 40-50% of the normal levels of thymocytes and splenocytes are seen (J:61201)
• only 40-50% of the normal levels of thymocytes and splenocytes are seen (J:61201)
• reduced numbers of immature B cells in bone marrow (J:61201)
• reduced numbers of immature B cells in bone marrow (J:61201)
• reduced numbers of precursor B cells in bone marrow (J:61201)
• mature B cell numbers are similar to controls (J:61201)
• reduced numbers of precursor B cells in bone marrow (J:61201)
• mature B cell numbers are similar to controls (J:61201)
• 8-10 fold reduction in splenic T cell numbers (J:61201)
• 8-10 fold reduction in splenic T cell numbers (J:61201)
• 2-fold decrease in double positive and a 5-fold decrease in single positive thymocytes (J:61201)
• 2-fold decrease in double positive and a 5-fold decrease in single positive thymocytes (J:61201)
• only 40-50% of the normal levels of splenocytes are seen (J:61201)
• only 40-50% of the normal levels of splenocytes are seen (J:61201)

endocrine/exocrine glands
• 2-fold decrease in double positive and a 5-fold decrease in single positive thymocytes (J:61201)
• 2-fold decrease in double positive and a 5-fold decrease in single positive thymocytes (J:61201)

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




Genotype
MGI:3851149
cx3
Allelic
Composition
Atmtm1Fwa/Atmtm1Fwa
H2afxtm1Fwa/H2afxtm1Fwa
Genetic
Background
involves: 129S4/SvJae * 129S6/SvEvTac
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atmtm1Fwa mutation (1 available); any Atm mutation (30 available)
H2afxtm1Fwa mutation (0 available); any H2afx mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• 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 (J:138190)
• breeding of these progeny resulted in embryonic lethality in the double homozygotes (J:138190)
• half the embryos are dead at E11.5 and all embryos dead by E12.5 (J:138190)
• embryos had pleiotropic developmental defects associated with increased cell death and decreased mitotic index (J:138190)
• 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 (J:138190)
• breeding of these progeny resulted in embryonic lethality in the double homozygotes (J:138190)
• half the embryos are dead at E11.5 and all embryos dead by E12.5 (J:138190)
• embryos had pleiotropic developmental defects associated with increased cell death and decreased mitotic index (J:138190)

cellular
• freshly isolated E10.5 MEFs have a dramatic increase in the sub-G1 population, indicative of massive cell death (J:138190)
• freshly isolated E10.5 MEFs have a dramatic increase in the sub-G1 population, indicative of massive cell death (J:138190)
• 80% of E10.5 MEFs have cytogenetic abnormalities compared to 2-3% in wild-type controls (J:138190)
• 80% of E10.5 MEFs have cytogenetic abnormalities compared to 2-3% in wild-type controls (J:138190)
• 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 (J:138190)
• 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 (J:138190)




Genotype
MGI:4839470
cx4
Allelic
Composition
Atmtm1Fwa/Atmtm1Fwa
Pknox1tm1Fbla/Pknox1+
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 (30 available)
Pknox1tm1Fbla mutation (0 available); any Pknox1 mutation (61 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
embryogenesis
• in 2 of 4 mice (J:165811)
• in 2 of 4 mice (J:165811)

growth/size/body
• in 2 of 4 mice (J:165811)
• in 2 of 4 mice (J:165811)




Genotype
MGI:4839471
cx5
Allelic
Composition
Atmtm1Fwa/Atmtm1Fwa
Pknox1tm1Fbla/Pknox1tm1Fbla
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 (30 available)
Pknox1tm1Fbla mutation (0 available); any Pknox1 mutation (61 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• only one mouse is recovered at E7.5 (J:165811)
• only one mouse is recovered at E7.5 (J:165811)

embryogenesis
• at E7.5, Oct4+ cells are almost undetectable in the single mouse generated (J:165811)
• at E7.5, Oct4+ cells are almost undetectable in the single mouse generated (J:165811)
• in the single mouse generated (J:165811)
• in the single mouse generated (J:165811)

growth/size/body
• in the single mouse generated (J:165811)
• in the single mouse generated (J:165811)





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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory