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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Xrcc1tm1Pmc
targeted mutation 1, Peter J McKinnon
MGI:3836442
Summary 7 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Xrcc1tm1Pmc/Xrcc1tm1Pmc involves: 129S1/Sv * C57BL/6 MGI:4359668
cn2
Xrcc1tm1Pmc/Xrcc1tm1Pmc
Trp53tm1Tyj/Trp53+
Tg(Nes-cre)1Kln/0
involves: 129S1/Sv * 129S2/SvPas * C57BL/6 * SJL MGI:4359665
cn3
Xrcc1tm1Pmc/Xrcc1tm1Pmc
Trp53tm1Tyj/Trp53tm1Tyj
Tg(Nes-cre)1Kln/0
involves: 129S1/Sv * 129S2/SvPas * C57BL/6 * SJL MGI:4359666
cn4
Meox2tm1(cre)Sor/Meox2+
Xrcc1tm1Pmc/Xrcc1tm1Pmc
involves: 129S1/Sv * 129S4/SvJaeSor * C57BL/6 MGI:4359664
cn5
Alpltm1(cre)Nagy/Alpl+
Xrcc1tm1Pmc/Xrcc1tm1Pmc
involves: 129S1/Sv * 129X1/SvJ MGI:6827282
cn6
Xrcc1tm1Pmc/Xrcc1tm1Pmc
Tg(Nes-cre)1Kln/0
involves: 129S1/Sv * C57BL/6 * SJL MGI:4359667
cn7
Xrcc1tm1Pmc/Xrcc1tm1Pmc
Tg(Nes-cre)1Kln/0
involves: 129S1/Sv * FVB/N MGI:4946938


Genotype
MGI:4359668
hm1
Allelic
Composition
Xrcc1tm1Pmc/Xrcc1tm1Pmc
Genetic
Background
involves: 129S1/Sv * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Xrcc1tm1Pmc mutation (1 available); any Xrcc1 mutation (45 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
normal phenotype
• mice are identical to wild-type mice




Genotype
MGI:4359665
cn2
Allelic
Composition
Xrcc1tm1Pmc/Xrcc1tm1Pmc
Trp53tm1Tyj/Trp53+
Tg(Nes-cre)1Kln/0
Genetic
Background
involves: 129S1/Sv * 129S2/SvPas * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tg(Nes-cre)1Kln mutation (4 available)
Trp53tm1Tyj mutation (12 available); any Trp53 mutation (240 available)
Xrcc1tm1Pmc mutation (1 available); any Xrcc1 mutation (45 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mice die by 6 months of age

neoplasm

nervous system




Genotype
MGI:4359666
cn3
Allelic
Composition
Xrcc1tm1Pmc/Xrcc1tm1Pmc
Trp53tm1Tyj/Trp53tm1Tyj
Tg(Nes-cre)1Kln/0
Genetic
Background
involves: 129S1/Sv * 129S2/SvPas * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tg(Nes-cre)1Kln mutation (4 available)
Trp53tm1Tyj mutation (12 available); any Trp53 mutation (240 available)
Xrcc1tm1Pmc mutation (1 available); any Xrcc1 mutation (45 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mice die by 4 months of age

nervous system
N
• loss of interneurons in the molecular layer of the cerebellum observed in Xrcc1tm1.1Pmc/Xrcc1tm1.1Pmc Tg(Nes-cre)1Kln is rescued with normal distribution of basket and stellate cells
• Golgi cells are only partially rescued compared to in Xrcc1tm1.1Pmc/Xrcc1tm1.1Pmc Tg(Nes-cre)1Kln

neoplasm

cellular
• Golgi cells are only partially rescued compared to in Xrcc1tm1.1Pmc/Xrcc1tm1.1Pmc Tg(Nes-cre)1Kln




Genotype
MGI:4359664
cn4
Allelic
Composition
Meox2tm1(cre)Sor/Meox2+
Xrcc1tm1Pmc/Xrcc1tm1Pmc
Genetic
Background
involves: 129S1/Sv * 129S4/SvJaeSor * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Meox2tm1(cre)Sor mutation (3 available); any Meox2 mutation (18 available)
Xrcc1tm1Pmc mutation (1 available); any Xrcc1 mutation (45 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging

embryo
• embryos are malformed by E10 with a high index of apoptosis
• embryos are malformed by E10 with a high index of apoptosis

cellular
• embryos are malformed by E10 with a high index of apoptosis




Genotype
MGI:6827282
cn5
Allelic
Composition
Alpltm1(cre)Nagy/Alpl+
Xrcc1tm1Pmc/Xrcc1tm1Pmc
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Alpltm1(cre)Nagy mutation (6 available); any Alpl mutation (352 available)
Xrcc1tm1Pmc mutation (1 available); any Xrcc1 mutation (45 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
reproductive system
• increased expression of DNA damage marker gamma-H2AX in spermatogonia at 8 weeks of age
• decreased expression of self-differentiation marker KIT and self-renewal marker ZBTB16 (zinc finger and BTB domain containing 16, also known as PLZF) in testicular tissues, indicating loss of stemness in spermatogonial stem cells
• up-regulated expression of apoptotic mitochondrial genes and increased TUNEL+ spermatogenic cells detected in testes, along with increased BAX expression, decreased BCL2 expression, and higher levels of the cleaved forms of caspase-3 and caspase-9
• decreased sperm motility at 8 weeks of age
• markedly reduced cell counts per seminiferous tubule at 8 weeks of age
• missing layers and epithelial disorganization in seminiferous tubules at 8 weeks of age
• severely reduced testis size at 8 weeks of age
• severe reduction in testis weight at 8 weeks of age
• however, body weight is normal
• decreased expression of spermatogenesis markers Stra8 (stimulated by retinoic acid gene 8) and Sycp3 (synaptonemal complex protein 3) in testes, indicating impaired spermatogenesis
• decreased sperm concentration at 8 weeks of age
• severe nuclear condensation and mitochondrial vacuolization in spermatocytes from 8-wk-old mice
• male mice mated with wild-type female mice fail to produce offspring

cellular
• decreased sperm concentration at 8 weeks of age
• severe nuclear condensation and mitochondrial vacuolization in spermatocytes from 8-wk-old mice
• increased expression of DNA damage marker gamma-H2AX in spermatogonia at 8 weeks of age
• decreased expression of self-differentiation marker KIT and self-renewal marker ZBTB16 (zinc finger and BTB domain containing 16, also known as PLZF) in testicular tissues, indicating loss of stemness in spermatogonial stem cells
• severe mitochondrial vacuolization in spermatocytes from 8-wk-old mice
• however, number of mitochondria is normal
• up-regulated expression of apoptotic mitochondrial genes and increased TUNEL+ spermatogenic cells detected in testes, along with increased BAX expression, decreased BCL2 expression, and higher levels of the cleaved forms of caspase-3 and caspase-9
• decreased sperm motility at 8 weeks of age
• marked reduction in mitochondrial membrane potential in testicular cells, indicating mitochondria dysfunction
• marked decrease in transcriptional levels of mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 (Nd2), -4, -5, -6 (complex I) and cytochrome b (complex III), along with significant reduction in complex I and complex III activities and ATP levels in testicular tissues
• reduction in glutathione to glutathione disulfide (GSH/GSSG) ratio, activity of superoxide dismutase, and catalase activity in testes at 8 weeks of age
• increase in malondialdehyde level and expression of DNA damage marker gamma-H2AX in testes at 8 weeks of age

endocrine/exocrine glands
• up-regulated expression of apoptotic mitochondrial genes and increased TUNEL+ spermatogenic cells detected in testes, along with increased BAX expression, decreased BCL2 expression, and higher levels of the cleaved forms of caspase-3 and caspase-9
• markedly reduced cell counts per seminiferous tubule at 8 weeks of age
• missing layers and epithelial disorganization in seminiferous tubules at 8 weeks of age
• severely reduced testis size at 8 weeks of age
• severe reduction in testis weight at 8 weeks of age
• however, body weight is normal

homeostasis/metabolism
• reduction in catalase activity in testes at 8 weeks of age




Genotype
MGI:4359667
cn6
Allelic
Composition
Xrcc1tm1Pmc/Xrcc1tm1Pmc
Tg(Nes-cre)1Kln/0
Genetic
Background
involves: 129S1/Sv * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tg(Nes-cre)1Kln mutation (4 available)
Xrcc1tm1Pmc mutation (1 available); any Xrcc1 mutation (45 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mice die by 4 months of age of uncertain causes

nervous system
• seizures or episodic epilepsy
• at P7, apoptosis in the external granule layer is increased compared to in wild-type mice
• however, no apoptosis in white mater is observed
• at E13.5, neural progenitor cells in the proliferative ventricular zone exhibit increased apoptosis compared to in wild-type mice
• from P0 onward, the number of Pax2+ interneuron progenitor cells is decreased compared to in wild-type mice
• from birth, the number of Pax3+ cells in the white matter are decreased and are absent by P7 unlike in wild-type mice
• however, Pax3+ cells in the external germinal layer are less effected
• cerebellar GABAergic interneurons in the molecular layer (mainly basket and stellate cells) and Golgi cells in the granule cell layer are almost absent
• however, cerebellum populations of unipolar brush and Lugaro cells are intact and interneuron populations in other areas of the brain are normal
• white matter contains fewer proliferating cells than in wild-type mice without an increase in apoptosis from birth to P10
• reduced 30% compared to in wild-type mice
• cerebellar GABAergic interneurons in the molecular layer (mainly basket and stellate cells) are almost absent unlike in wild-type mice

homeostasis/metabolism
• primary quiescent astrocytes treated with MMS or hydrogen peroxide exhibit increased accumulation of DNA strand breaks compared with similarly treated wild-type cells (J:145730)
• neurons from P15 cerebella subjected to alkaline comet analysis exhibit a 4-fold increase in global DNA strand breaks compared to in similarly treated wild-type neurons (J:152528)
• DNA strand breaks in postmitotic cerebellar granule cell neurons and quiescent cortical astrocytes exposed to ionizing radiation or hydrogen peroxide remain unrepaired after a prolonged recovery unlike similarly treated wild-type cells (J:152528)
• DNA damage markers accumulate in the brain throughout development unlike in wild-type mice (J:152528)
• the hippocampus displays increased unrepaired DNA damage compared to in wild-type mice (J:152528)

growth/size/body
• adult mice are 75% the size and weight of wild-type mice
• adult mice are 75% the size and weight of wild-type mice

behavior/neurological
• mice exhibit progressive and mild ataxia accompanied by episodic spasms unlike wild-type mice
• seizures or episodic epilepsy

cellular
N
• primary astrocytes show normal repair of DNA double strand breaks after bleomycin treatment
• at P7, apoptosis in the external granule layer is increased compared to in wild-type mice
• however, no apoptosis in white mater is observed
• at E13.5, neural progenitor cells in the proliferative ventricular zone exhibit increased apoptosis compared to in wild-type mice
• from P0 onward, the number of Pax2+ interneuron progenitor cells is decreased compared to in wild-type mice
• from birth, the number of Pax3+ cells in the white matter are decreased and are absent by P7 unlike in wild-type mice
• however, Pax3+ cells in the external germinal layer are less effected
• primary quiescent astrocytes treated with MMS or hydrogen peroxide exhibit increased accumulation of DNA strand breaks compared with similarly treated wild-type cells (J:145730)
• neurons from P15 cerebella subjected to alkaline comet analysis exhibit a 4-fold increase in global DNA strand breaks compared to in similarly treated wild-type neurons (J:152528)
• DNA strand breaks in postmitotic cerebellar granule cell neurons and quiescent cortical astrocytes exposed to ionizing radiation or hydrogen peroxide remain unrepaired after a prolonged recovery unlike similarly treated wild-type cells (J:152528)
• DNA damage markers accumulate in the brain throughout development unlike in wild-type mice (J:152528)
• the hippocampus displays increased unrepaired DNA damage compared to in wild-type mice (J:152528)




Genotype
MGI:4946938
cn7
Allelic
Composition
Xrcc1tm1Pmc/Xrcc1tm1Pmc
Tg(Nes-cre)1Kln/0
Genetic
Background
involves: 129S1/Sv * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tg(Nes-cre)1Kln mutation (4 available)
Xrcc1tm1Pmc mutation (1 available); any Xrcc1 mutation (45 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular
• astrocytes exhibit unrepaired DNA damage in response to ionizing radiation, hydrogen peroxide, and ultraviolet irradiation compared with similarly treated wild-type cells

homeostasis/metabolism
• astrocytes exhibit unrepaired DNA damage in response to ionizing radiation, hydrogen peroxide, and ultraviolet irradiation compared with similarly treated wild-type cells





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last database update
12/10/2024
MGI 6.24
The Jackson Laboratory