All Phenotypes Trp53bp1<tm1Jc> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Trp53bp1^tm1Jc/Trp53bp1^tm1Jc	involves: 129	MGI:5484528
hm2	Trp53bp1^tm1Jc/Trp53bp1^tm1Jc	involves: 129 * C57BL/6	MGI:2654203
cn3	Aicda^tm1Hon/Aicda^tm1Hon Igh^tm3Mnz/Igh^tm4.1Mnz Trp53bp1^tm1Jc/Trp53bp1^tm1Jc	involves: 129 * C57BL/6 * CBA	MGI:4452376
cn4	Brca2^tm1Brn/Brca2^tm1Brn Trp53bp1^tm1Jc/Trp53bp1^tm1Jc Cd19^tm1(cre)Cgn/Cd19⁺	involves: 129P2/OlaHsd	MGI:5495980
cn5	Palb2^tm1.1Dli/Palb2^tm1.1Dli Trp53bp1^tm1Jc/Trp53bp1^tm1Jc Cd19^tm1(cre)Cgn/Cd19⁺	involves: 129P2/OlaHsd * 129S4/SvJaeSor * C57BL/6	MGI:5495974
cn6	Brca1^tm2Cxd/Brca1^tm2Cxd Trp53bp1^tm1Jc/Trp53bp1^tm1Jc Cd19^tm1(cre)Cgn/Cd19⁺	involves: 129P2/OlaHsd * 129S6/SvEvTac	MGI:5495978
cn7	Blm^tm4Ches/Blm^tm4Ches Trp53bp1^tm1Jc/Trp53bp1^tm1Jc Cd19^tm1(cre)Cgn/Cd19⁺	involves: 129P2/OlaHsd * 129S6/SvEvTac	MGI:5484530
cx8	Brca1^tm2.1Cxd/Brca1^tm2.1Cxd Trp53bp1^tm1Jc/Trp53bp1^tm1Jc	involves: 129 * 129S6/SvEvTac	MGI:6739937
cx9	Aicda^tm1Hon/Aicda^tm1Hon Igh^tm4.1Mnz/Igh⁺ Trp53bp1^tm1Jc/Trp53bp1^tm1Jc	involves: 129 * C57BL/6 * C57BL/6NCrlj * CBA/JNCrlj	MGI:5484523
cx10	Aicda^tm1Hon/Aicda^tm1Hon Exo1^tm1Wed/Exo1^tm1Wed Igh^tm4.1Mnz/Igh⁺ Trp53bp1^tm1Jc/Trp53bp1^tm1Jc	involves: 129 * C57BL/6 * CBA/JNCrlj * SJL	MGI:5484525
cx11	Helb^{tm1(KOMP)Vlcg}/Helb^{tm1(KOMP)Vlcg} Trp53bp1^tm1Jc/Trp53bp1^tm1Jc	involves: 129 * C57BL/6NTac	MGI:5898295
cx12	Rif1^{Gt(XT0278)Wtsi}/Rif1^{Gt(XT0278)Wtsi} Trp53bp1^tm1Jc/Trp53bp1^tm1Jc	involves: 129P2/OlaHsd * CD-1 * MF1	MGI:5494855
cx13	Aicda^tm1Hon/Aicda^tm1Hon Blm^tm3Brd/Blm^tm3Brd Igh^tm4.1Mnz/Igh⁺ Trp53bp1^tm1Jc/Trp53bp1^tm1Jc	involves: 129S7/SvEvBrd * C57BL/6 * C57BL/6NCrlj * CBA/JNCrlj	MGI:5484527

Allelic Composition	Trp53bp1^tm1Jc/Trp53bp1^tm1Jc
Genetic Background	involves: 129

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Trp53bp1^tm1Jc mutation (1 available); any Trp53bp1 mutation (100 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

cellular

abnormal cell physiology ( J:194603 )

• mouse embryonic cells are more sensitive to DNA damage induced by radiation compared to wild type cells

increased cellular sensitivity to hydroxyurea ( J:194603 )

increased cellular sensitivity to ionizing radiation ( J:194603 , J:231089 )

• severe reduction in number of ionizing radiation induced Rif1 foci in MEFs (J:231089)

• increased Rpa2 phosphorylation after treatment with radiomimetic drug neocarzinostatin (NCS) in MEFs (J:231089)

abnormal DNA repair ( J:195061 )

• mouse embryonic fibroblasts exhibit suppression of chromosome end fusion events at telomeres induced by expression of a dominant negative Terf2

abnormal double-strand DNA break repair ( J:231089 )

• increased single-strand DNA formation due to increased DNA end resection in MEFs

hematopoietic system

abnormal class switch recombination ( J:194603 , J:231089 , J:307190 )

• impaired but partially rescued by short hairpin RNA inhibition of Rbbp8 and enhanced by treatment with the WRNi helicase inhibitor or to a lesser extent the ATM inhibitor Ku55933 (J:194603)

• severely impaired IgM-to-IgG1 CSR in splenic B cells stimulated with interleukin-4 and lipopolysaccharide (J:231089)

• mice show defects in IgG1 class switch recombination (J:307190)

immune system

abnormal class switch recombination ( J:194603 , J:231089 , J:307190 )

• impaired but partially rescued by short hairpin RNA inhibition of Rbbp8 and enhanced by treatment with the WRNi helicase inhibitor or to a lesser extent the ATM inhibitor Ku55933 (J:194603)

• severely impaired IgM-to-IgG1 CSR in splenic B cells stimulated with interleukin-4 and lipopolysaccharide (J:231089)

• mice show defects in IgG1 class switch recombination (J:307190)

homeostasis/metabolism

abnormal DNA repair ( J:195061 )

• mouse embryonic fibroblasts exhibit suppression of chromosome end fusion events at telomeres induced by expression of a dominant negative Terf2

abnormal double-strand DNA break repair ( J:231089 )

• increased single-strand DNA formation due to increased DNA end resection in MEFs

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

mortality/aging

increased mortality induced by ionizing radiation ( J:82512 )

• in response to 8 Gy of whole body ionizing radiation (IR), all homozygotes die by 14 days from radiation-induced intestinal bleeding and bone marrow failure, whereas most wild-type mice remain viable for at least 2 months after IR treatment

premature death ( J:82512 )

• 9% of homozygotes die at the ages of 1 to 7 months in the absence of overt detectable tumors; possibly due to opportunistic infections

growth/size/body

decreased body size ( J:82512 )

• homozygotes are significantly smaller than wild-type and heterozygous control mice

decreased body weight ( J:82512 )

• at 5 months of age, both male and female homozygotes weigh significantly less than their wild-type or heterozygous counterparts

postnatal growth retardation ( J:82512 )

• homozygotes of both sexes are growth retarded relative to wild-type or heterozygous control littermates

immune system

thymus hypoplasia ( J:82512 )

• homozygotes show a 40% reduction in thymus cellularity relative to wild-type littermates

increased double-negative T cell number ( J:82512 )

• at 6 weeks of age, homozygotes show a maximum 2-fold increase in the percentage of CD4^- CD8^- progenitors relative to wild-type littermates

decreased CD4-positive, alpha-beta T cell number ( J:82512 )

• at 6 weeks of age, homozygotes show a ~2-fold reduction in the percentage of CD4⁺ mature thymocytes and peripheral CD4⁺ T lymphocytes relative to wild-type littermates

hematopoietic system

thymus hypoplasia ( J:82512 )

• homozygotes show a 40% reduction in thymus cellularity relative to wild-type littermates

increased double-negative T cell number ( J:82512 )

• at 6 weeks of age, homozygotes show a maximum 2-fold increase in the percentage of CD4^- CD8^- progenitors relative to wild-type littermates

decreased CD4-positive, alpha-beta T cell number ( J:82512 )

• at 6 weeks of age, homozygotes show a ~2-fold reduction in the percentage of CD4⁺ mature thymocytes and peripheral CD4⁺ T lymphocytes relative to wild-type littermates

cellular

aneuploidy ( J:82512 )

• mutant MEFs (passage 3) show a tendency toward aneuploidy

abnormal cell cycle checkpoint function ( J:82512 )

• several hrs after exposure to 6 Gy of ionizing radiation (IR), mutant MEFs, like wild-type MEFs, are arrested in G₂ but display a delayed exit from the G₂/M phase

• at 24 hrs after IR, the % of mitotic cells is ~3-fold lower in nocodazole-treated mutant MEFs than in wild-type cells, as assessed by immunostaining with anti-phospho-histone H3 antibodies

• at 30 min after exposure to 20 Gy of IR, mutant MEFs show a slight defect in intra-S-phase checkpoint regulation relative to wild-type MEFs

• however, mutant MEFs, synchronized by a cycle of serum starvation and release, show a normal G₁ arrest in response to 10 to 20 Gy of IR

increased cellular sensitivity to ionizing radiation ( J:82512 )

• mutant ES cells show a 2- to 3-fold increase in ionizing radiation sensitivity relative to wild-type ES cells, revealed by in vitro clonogenic survival assays

decreased cell proliferation ( J:82512 )

• MEFs derived from E14.5 homozygous mutant embryos display a reduced proliferation rate relative to wild-type MEFs

chromosomal instability ( J:82512 )

• mutant MEFs (passage 3) show a tendency toward aneuploidy and/or tetraploidy, suggesting a defect in chromosome segregation

• however, no spontaneous chromosomal breaks are detected in mutant MEFs

neoplasm

increased lymphoma incidence ( J:82512 )

• homozygotes exhibit an increased incidence of malignant lymphomas, putatively due to an inability to detect or repair abnormal V(D)J recombination

increased T cell derived lymphoma incidence ( J:82512 )

• at 4 to 7 months of age, 8% of homozygotes develop massive thymic lymphomas with or without infiltration of the lymph nodes, spleen, and kidney, not observed in wild-type or heterozygous control mice

• three of these tumors display a CD4⁺CD8⁺ immunophenotype

reproductive system

reproductive system phenotype ( J:82512 )

N	• male homozygotes show no overt defects in spermatogenesis, suggesting normal meiosis

decreased litter size ( J:82512 )

• although both male and female homozygotes are fertile, the average litter size of homozygous mutant intercrosses is slightly reduced relative to that of wild-type intercrosses

homeostasis/metabolism

increased mortality induced by ionizing radiation ( J:82512 )

endocrine/exocrine glands

thymus hypoplasia ( J:82512 )

• homozygotes show a 40% reduction in thymus cellularity relative to wild-type littermates

increased T cell derived lymphoma incidence ( J:82512 )

• three of these tumors display a CD4⁺CD8⁺ immunophenotype

Allelic Composition	Aicda^tm1Hon/Aicda^tm1Hon Igh^tm3Mnz/Igh^tm4.1Mnz Trp53bp1^tm1Jc/Trp53bp1^tm1Jc
Genetic Background	involves: 129 * C57BL/6 * CBA

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Aicda^tm1Hon mutation (7 available); any Aicda mutation (55 available)
Igh^tm3Mnz mutation (1 available); any Igh mutation (43 available)
Igh^tm4.1Mnz mutation (0 available); any Igh mutation (43 available)
Trp53bp1^tm1Jc mutation (1 available); any Trp53bp1 mutation (100 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

hematopoietic system

abnormal class switch recombination ( J:159173 )

• I-SceI mediated class switch recombination in LPS- and IL4-stimulated B cells is decreased compared to similarly treated Aicda^tm1Hon/Aicda^tm1Hon Igh^tm3Mnz/Igh^tm4.1Mnz B cells

immune system

abnormal class switch recombination ( J:159173 )

• I-SceI mediated class switch recombination in LPS- and IL4-stimulated B cells is decreased compared to similarly treated Aicda^tm1Hon/Aicda^tm1Hon Igh^tm3Mnz/Igh^tm4.1Mnz B cells

Allelic Composition	Brca2^tm1Brn/Brca2^tm1Brn Trp53bp1^tm1Jc/Trp53bp1^tm1Jc Cd19^tm1(cre)Cgn/Cd19⁺
Genetic Background	involves: 129P2/OlaHsd

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Brca2^tm1Brn mutation (5 available); any Brca2 mutation (132 available)
Cd19^tm1(cre)Cgn mutation (11 available); any Cd19 mutation (56 available)
Trp53bp1^tm1Jc mutation (1 available); any Trp53bp1 mutation (100 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

cellular

chromosome breakage ( J:197442 )

• cells treated with PARP-inhibition exhibit increased chromosomal damage compared with cells from Brca2^tm1Brn/Brca2^tm1Brn Cd19^tm1(cre)Cgn/Cd19^tm1(cre)Cgn mice

Allelic Composition	Palb2^tm1.1Dli/Palb2^tm1.1Dli Trp53bp1^tm1Jc/Trp53bp1^tm1Jc Cd19^tm1(cre)Cgn/Cd19⁺
Genetic Background	involves: 129P2/OlaHsd * 129S4/SvJaeSor * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cd19^tm1(cre)Cgn mutation (11 available); any Cd19 mutation (56 available)
Palb2^tm1.1Dli mutation (1 available); any Palb2 mutation (50 available)
Trp53bp1^tm1Jc mutation (1 available); any Trp53bp1 mutation (100 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

cellular

chromosome breakage ( J:197442 )

• the number of chromosomal aberrations (chromatid breaks, chromosome breaks and radial chromosomes) in B lymphocytes is increased by treatment with KU0058949 (PARP inhibitor) compared to in wild-type mice

Allelic Composition	Brca1^tm2Cxd/Brca1^tm2Cxd Trp53bp1^tm1Jc/Trp53bp1^tm1Jc Cd19^tm1(cre)Cgn/Cd19⁺
Genetic Background	involves: 129P2/OlaHsd * 129S6/SvEvTac

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Brca1^tm2Cxd mutation (3 available); any Brca1 mutation (113 available)
Cd19^tm1(cre)Cgn mutation (11 available); any Cd19 mutation (56 available)
Trp53bp1^tm1Jc mutation (1 available); any Trp53bp1 mutation (100 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

cellular

cellular phenotype ( J:197442 )

N	• chromosomal damage induced by PARP-inhibition is rescued compared to in cells from Brca1^tm2Cxd/Brca1^tm2Cxd Cd19^tm1(cre)Cgn/Cd19⁺ mice

Allelic Composition	Blm^tm4Ches/Blm^tm4Ches Trp53bp1^tm1Jc/Trp53bp1^tm1Jc Cd19^tm1(cre)Cgn/Cd19⁺
Genetic Background	involves: 129P2/OlaHsd * 129S6/SvEvTac

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Blm^tm4Ches mutation (1 available); any Blm mutation (87 available)
Cd19^tm1(cre)Cgn mutation (11 available); any Cd19 mutation (56 available)
Trp53bp1^tm1Jc mutation (1 available); any Trp53bp1 mutation (100 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

immune system

abnormal class switch recombination ( J:194603 )

• increased switching to a small extent compared with Trp53bp1^tm1Jc homozygotes

hematopoietic system

abnormal class switch recombination ( J:194603 )

• increased switching to a small extent compared with Trp53bp1^tm1Jc homozygotes

Allelic Composition	Brca1^tm2.1Cxd/Brca1^tm2.1Cxd Trp53bp1^tm1Jc/Trp53bp1^tm1Jc
Genetic Background	involves: 129 * 129S6/SvEvTac

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Brca1^tm2.1Cxd mutation (1 available); any Brca1 mutation (113 available)
Trp53bp1^tm1Jc mutation (1 available); any Trp53bp1 mutation (100 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

immune system

abnormal class switch recombination ( J:307190 )

• mice show defects in IgG1 class switch recombination

hematopoietic system

abnormal class switch recombination ( J:307190 )

• mice show defects in IgG1 class switch recombination

cellular

chromosomal instability ( J:307190 )

• PARPi-induced genome instability is lower in primary B cells compared to that seen in homozygous Brca1 mutant cells but still increased compared to in wild-type cells

Allelic Composition	Aicda^tm1Hon/Aicda^tm1Hon Igh^tm4.1Mnz/Igh⁺ Trp53bp1^tm1Jc/Trp53bp1^tm1Jc
Genetic Background	involves: 129 * C57BL/6 * C57BL/6NCrlj * CBA/JNCrlj

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Aicda^tm1Hon mutation (7 available); any Aicda mutation (55 available)
Igh^tm4.1Mnz mutation (0 available); any Igh mutation (43 available)
Trp53bp1^tm1Jc mutation (1 available); any Trp53bp1 mutation (100 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

immune system

abnormal immunoglobulin heavy chain V(D)J recombination ( J:194603 )

• following Rbbp8 depletion using short hairpin RNA, B cell exhibit reduced frequency of recombination joins displaying extensive resection and mean number of resected nucleotides created by I-SceI compared with wild-type cells

• treatment with a small molecular inhibitor of Mre11a or Wrn produces no effect on resection of microhomology at the junctions

hematopoietic system

abnormal immunoglobulin heavy chain V(D)J recombination ( J:194603 )

• treatment with a small molecular inhibitor of Mre11a or Wrn produces no effect on resection of microhomology at the junctions

Allelic Composition	Aicda^tm1Hon/Aicda^tm1Hon Exo1^tm1Wed/Exo1^tm1Wed Igh^tm4.1Mnz/Igh⁺ Trp53bp1^tm1Jc/Trp53bp1^tm1Jc
Genetic Background	involves: 129 * C57BL/6 * CBA/JNCrlj * SJL

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Aicda^tm1Hon mutation (7 available); any Aicda mutation (55 available)
Exo1^tm1Wed mutation (0 available); any Exo1 mutation (45 available)
Igh^tm4.1Mnz mutation (0 available); any Igh mutation (43 available)
Trp53bp1^tm1Jc mutation (1 available); any Trp53bp1 mutation (100 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

immune system

abnormal immunoglobulin heavy chain V(D)J recombination ( J:194603 )

• B cell exhibit reduced frequency of recombination joins displaying extensive resection and mean number of resected nucleotides created by I-SceI compared with wild-type cells

hematopoietic system

abnormal immunoglobulin heavy chain V(D)J recombination ( J:194603 )

• B cell exhibit reduced frequency of recombination joins displaying extensive resection and mean number of resected nucleotides created by I-SceI compared with wild-type cells

Allelic Composition	Helb^{tm1(KOMP)Vlcg}/Helb^{tm1(KOMP)Vlcg} Trp53bp1^tm1Jc/Trp53bp1^tm1Jc
Genetic Background	involves: 129 * C57BL/6NTac

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Helb^{tm1(KOMP)Vlcg} mutation (0 available); any Helb mutation (67 available)
Trp53bp1^tm1Jc mutation (1 available); any Trp53bp1 mutation (100 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

cellular

abnormal double-strand DNA break repair ( J:231089 )

• additive increase in DNA end resection in double knockout MEFs compared to single KO after treatment with radiomimetic drug neocarzinostatin (NCS)

homeostasis/metabolism

abnormal double-strand DNA break repair ( J:231089 )

• additive increase in DNA end resection in double knockout MEFs compared to single KO after treatment with radiomimetic drug neocarzinostatin (NCS)

Allelic Composition	Rif1^{Gt(XT0278)Wtsi}/Rif1^{Gt(XT0278)Wtsi} Trp53bp1^tm1Jc/Trp53bp1^tm1Jc
Genetic Background	involves: 129P2/OlaHsd * CD-1 * MF1

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rif1^{Gt(XT0278)Wtsi} mutation (0 available); any Rif1 mutation (172 available)
Trp53bp1^tm1Jc mutation (1 available); any Trp53bp1 mutation (100 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

cellular

increased cellular sensitivity to ionizing radiation ( J:195061 )

• in mouse embryonic fibroblasts (MEFs) as in MEFs from Rif1^{Gt(XT0278)Wtsi} homozygotes

Allelic Composition	Aicda^tm1Hon/Aicda^tm1Hon Blm^tm3Brd/Blm^tm3Brd Igh^tm4.1Mnz/Igh⁺ Trp53bp1^tm1Jc/Trp53bp1^tm1Jc
Genetic Background	involves: 129S7/SvEvBrd * C57BL/6 * C57BL/6NCrlj * CBA/JNCrlj

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Aicda^tm1Hon mutation (7 available); any Aicda mutation (55 available)
Blm^tm3Brd mutation (1 available); any Blm mutation (87 available)
Igh^tm4.1Mnz mutation (0 available); any Igh mutation (43 available)
Trp53bp1^tm1Jc mutation (1 available); any Trp53bp1 mutation (100 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

immune system

immune system phenotype ( J:194603 )

N	• B cells exhibit normal resection and junctional microhomology

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