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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
H2afxtm1Fwa
targeted mutation 1, Frederick W Alt
MGI:2670743
Summary 5 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
H2afxtm1Fwa/H2afxtm1Fwa involves: 129S6/SvEvTac MGI:4438385
ht2
H2afxtm1Fwa/H2afx+ involves: 129S6/SvEvTac MGI:4438386
cx3
Atmtm1Fwa/Atmtm1Fwa
H2afxtm1Fwa/H2afxtm1Fwa
involves: 129S4/SvJae * 129S6/SvEvTac MGI:3851149
cx4
H2afxtm1Fwa/H2afxtm1Fwa
Trp53tm1Brd/Trp53tm1Brd
involves: 129S6/SvEvTac * 129S7/SvEvBrd * C57BL/6 MGI:2673482
cx5
H2afxtm1Fwa/H2afx+
Trp53tm1Brd/Trp53tm1Brd
involves: 129S6/SvEvTac * 129S7/SvEvBrd * C57BL/6 MGI:2673488


Genotype
MGI:4438385
hm1
Allelic
Composition
H2afxtm1Fwa/H2afxtm1Fwa
Genetic
Background
involves: 129S6/SvEvTac
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
H2afxtm1Fwa mutation (0 available); any H2afx mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
endocrine/exocrine glands
• 3 mutants succumb to aggressive CD4+/CD8+ thymic lymphomas, harboring translocations involving chromosomes 14 and 16, indicating a low level of increased tumor incidence

cellular
• 52% of splenic T cells exhibit chromosomal abnormalities, including chromosomal gaps, fusions, fragments, and detached centromeres, compared to 11% in wild-type

growth/size/body

hematopoietic system
• impaired class-switch recombination

immune system
• impaired class-switch recombination

neoplasm
• 3 mutants succumb to aggressive CD4+/CD8+ thymic lymphomas, harboring translocations involving chromosomes 14 and 16, indicating a low level of increased tumor incidence




Genotype
MGI:4438386
ht2
Allelic
Composition
H2afxtm1Fwa/H2afx+
Genetic
Background
involves: 129S6/SvEvTac
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
H2afxtm1Fwa mutation (0 available); any H2afx mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular
• 30% of splenic T cells exhibit chromosomal abnormalities, including chromosomal gaps, fusions, fragments, and detached centromeres compared to 11% in wild-type




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 (89 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
• 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

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




Genotype
MGI:2673482
cx4
Allelic
Composition
H2afxtm1Fwa/H2afxtm1Fwa
Trp53tm1Brd/Trp53tm1Brd
Genetic
Background
involves: 129S6/SvEvTac * 129S7/SvEvBrd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
H2afxtm1Fwa mutation (0 available); any H2afx mutation (1 available)
Trp53tm1Brd mutation (6 available); any Trp53 mutation (145 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
digestive/alimentary system
• seen in some mutants with multiple cancers

endocrine/exocrine glands
• aggressive thymic lymphomas

mortality/aging
• die with lymphomas as early as 6 weeks of age, with 50% mortality by 10 weeks and most dead by 13 weeks

neoplasm
• some mutants develop multiple cancers
• seen in some mutants with multiple cancers
• aggressive thymic lymphomas
• B220+/IgM- B lineage lymphomas and pro-B cell lymphomas; often harboring translocations involving chromosomes 12 (Igh) and 15 (Myc)
• seen in some mutants with multiple cancers




Genotype
MGI:2673488
cx5
Allelic
Composition
H2afxtm1Fwa/H2afx+
Trp53tm1Brd/Trp53tm1Brd
Genetic
Background
involves: 129S6/SvEvTac * 129S7/SvEvBrd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
H2afxtm1Fwa mutation (0 available); any H2afx mutation (1 available)
Trp53tm1Brd mutation (6 available); any Trp53 mutation (145 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
endocrine/exocrine glands

mortality/aging
• 50% mortality by 17 weeks of age

neoplasm
• develop lymphomas very early
• B lineage lymphomas, including Igmu+/IgL- pre-B cell lymphoma and IgM- B lineage lymphoma
• often harboring translocations involving chromosomes 12 (Igh) and 15 (Myc)
• develop teratomas very early





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last database update
08/17/2016
MGI 6.05
The Jackson Laboratory