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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Xrcc4tm2Fwa
targeted mutation 2, Frederick W Alt
MGI:3641440
Summary 6 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
cn1
Tg(Cr2-cre)3Cgn/?
Xrcc4tm1Fwa/Xrcc4tm2Fwa
involves: 129P2/OlaHsd * 129S6/SvEvTac MGI:4352685
cn2
Aicdatm1Hon/Aicdatm1Hon
Tg(Cr2-cre)3Cgn/?
Xrcc4tm1Fwa/Xrcc4tm2Fwa
involves: 129P2/OlaHsd * 129S6/SvEvTac * C57BL/6 * CBA MGI:4352686
cn3
Lig4tm1Fwa/Lig4tm1Fwa
Tg(Cr2-cre)3Cgn/0
Xrcc4tm2Fwa/Xrcc4tm2Fwa
involves: 129S6/SvEvTac MGI:4437909
cn4
Trp53tm1Brd/Trp53+
Xrcc4tm2.1Fwa/Xrcc4tm2Fwa
Tg(Nes-cre)1Kln/0
involves: 129S6/SvEvTac * 129S7/SvEvBrd * C57BL/6 * SJL MGI:3652715
cn5
Trp53tm1Brd/Trp53tm1Brd
Xrcc4tm2.1Fwa/Xrcc4tm2Fwa
Tg(Nes-cre)1Kln/0
involves: 129S6/SvEvTac * 129S7/SvEvBrd * C57BL/6 * SJL MGI:3652717
cx6
Rag2tm1Cgn/Rag2tm1Cgn
Tg(Cr2-cre)3Cgn/?
Xrcc4tm1Fwa/Xrcc4tm2Fwa
involves: 129P2/OlaHsd * 129S6/SvEvTac * C57BL/6 MGI:4352688


Genotype
MGI:4352685
cn1
Allelic
Composition
Tg(Cr2-cre)3Cgn/?
Xrcc4tm1Fwa/Xrcc4tm2Fwa
Genetic
Background
involves: 129P2/OlaHsd * 129S6/SvEvTac
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tg(Cr2-cre)3Cgn mutation (2 available)
Xrcc4tm1Fwa mutation (0 available); any Xrcc4 mutation (21 available)
Xrcc4tm2Fwa mutation (0 available); any Xrcc4 mutation (21 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular
• genomic stability is disrupted in activated B cells with chromosome breakage occurring in close to half of cells
• B cells undergoing class switch recombination have even greater increased risk of chromosome breakage due to aberrations at the Igh locus
• there is also increased breakage at the Igk and Igl loci with 1% of stimulated B cells demonstrating this
• Igl breaks in activated B cells are frequently fused to AID-dependent Igh breaks in the same cell to form chromosome 12/16 translocations
• there is also a five-fold increase in Igh-Myc translocations activated B cells compared to controls

hematopoietic system
• class switch recombination often leads to chromosome breakage at the Igh locus

immune system
• class switch recombination often leads to chromosome breakage at the Igh locus




Genotype
MGI:4352686
cn2
Allelic
Composition
Aicdatm1Hon/Aicdatm1Hon
Tg(Cr2-cre)3Cgn/?
Xrcc4tm1Fwa/Xrcc4tm2Fwa
Genetic
Background
involves: 129P2/OlaHsd * 129S6/SvEvTac * C57BL/6 * CBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Aicdatm1Hon mutation (7 available); any Aicda mutation (32 available)
Tg(Cr2-cre)3Cgn mutation (2 available)
Xrcc4tm1Fwa mutation (0 available); any Xrcc4 mutation (21 available)
Xrcc4tm2Fwa mutation (0 available); any Xrcc4 mutation (21 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular
• however, there is no increased breakage of the Igh locus compared to wild-type controls
• genomic stability is disrupted in activated B cells with chromosome breakage occurring in close to half of cells
• there is increased breakage at the Igk and Igl loci with 1% of stimulated B cells demonstrating this




Genotype
MGI:4437909
cn3
Allelic
Composition
Lig4tm1Fwa/Lig4tm1Fwa
Tg(Cr2-cre)3Cgn/0
Xrcc4tm2Fwa/Xrcc4tm2Fwa
Genetic
Background
involves: 129S6/SvEvTac
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lig4tm1Fwa mutation (1 available); any Lig4 mutation (23 available)
Tg(Cr2-cre)3Cgn mutation (2 available)
Xrcc4tm2Fwa mutation (0 available); any Xrcc4 mutation (21 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
immune system
• class switching to IgG1 is 20% to 50% of wild-type
• class switching to IgG3 is 50% of wild-type
• IgH class switching is reduced compared to in wild-type B cells

cellular
• B cell stimulated with anti-CD40 and IL4 exhibit metaphase chromosome breaks unlike similarly treated wild-type cells

hematopoietic system
• class switching to IgG1 is 20% to 50% of wild-type
• class switching to IgG3 is 50% of wild-type
• IgH class switching is reduced compared to in wild-type B cells




Genotype
MGI:3652715
cn4
Allelic
Composition
Trp53tm1Brd/Trp53+
Xrcc4tm2.1Fwa/Xrcc4tm2Fwa
Tg(Nes-cre)1Kln/0
Genetic
Background
involves: 129S6/SvEvTac * 129S7/SvEvBrd * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tg(Nes-cre)1Kln mutation (3 available)
Trp53tm1Brd mutation (6 available); any Trp53 mutation (145 available)
Xrcc4tm2.1Fwa mutation (0 available); any Xrcc4 mutation (21 available)
Xrcc4tm2Fwa mutation (0 available); any Xrcc4 mutation (21 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
N
• mice survive beyond 16 months




Genotype
MGI:3652717
cn5
Allelic
Composition
Trp53tm1Brd/Trp53tm1Brd
Xrcc4tm2.1Fwa/Xrcc4tm2Fwa
Tg(Nes-cre)1Kln/0
Genetic
Background
involves: 129S6/SvEvTac * 129S7/SvEvBrd * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tg(Nes-cre)1Kln mutation (3 available)
Trp53tm1Brd mutation (6 available); any Trp53 mutation (145 available)
Xrcc4tm2.1Fwa mutation (0 available); any Xrcc4 mutation (21 available)
Xrcc4tm2Fwa mutation (0 available); any Xrcc4 mutation (21 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mice become moribund between 12 and 14 weeks of age with 20/23 mice dead by 25 weeks

nervous system
• mice develop medulloblastomas
• mice at 4 and 8.5 weeks of age show multifocal tumor masses expanding from the granular layer
• at 12-14 weeks mice have aggressive medulloblastomas in the vermis or hemisphere

craniofacial
• at 12-14 weeks skulls of mice show rapid morphological enlargement

skeleton
• at 12-14 weeks skulls of mice show rapid morphological enlargement

neoplasm
• mice develop medulloblastomas

Mouse Models of Human Disease
OMIM ID Ref(s)
Medulloblastoma; MDB 155255 J:109585




Genotype
MGI:4352688
cx6
Allelic
Composition
Rag2tm1Cgn/Rag2tm1Cgn
Tg(Cr2-cre)3Cgn/?
Xrcc4tm1Fwa/Xrcc4tm2Fwa
Genetic
Background
involves: 129P2/OlaHsd * 129S6/SvEvTac * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rag2tm1Cgn mutation (2 available); any Rag2 mutation (78 available)
Tg(Cr2-cre)3Cgn mutation (2 available)
Xrcc4tm1Fwa mutation (0 available); any Xrcc4 mutation (21 available)
Xrcc4tm2Fwa mutation (0 available); any Xrcc4 mutation (21 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular
• genomic stability is disrupted in activated B cells with chromosome breakage occurring in close to half of cells
• B cells undergoing class switch recombination have even greater increased risk of chromosome breakage due to aberrations at the Igh locus
• there is decreased breakage at Igl locus compared to conditional knockouts on a Rag-sufficient background

hematopoietic system
• class switch recombination often leads to chromosome breakage at the Igh locus

immune system
• class switch recombination often leads to chromosome breakage at the Igh locus





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last database update
09/20/2016
MGI 6.05
The Jackson Laboratory