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Allele Symbol Allele Name Allele ID |
Xrcc1tm1Pmc targeted mutation 1, Peter J McKinnon MGI:3836442 |
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| Summary |
7 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice die by 6 months of age
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• in 13% of mice
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• in 13% of mice
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice die by 4 months of age
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| 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
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• Golgi cells are only partially rescued compared to in Xrcc1tm1.1Pmc/Xrcc1tm1.1Pmc Tg(Nes-cre)1Kln
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• Golgi cells are only partially rescued compared to in Xrcc1tm1.1Pmc/Xrcc1tm1.1Pmc Tg(Nes-cre)1Kln
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice die by E12.5
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• embryos are malformed by E10 with a high index of apoptosis
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• embryos are malformed by E10 with a high index of apoptosis
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• embryos are malformed by E10 with a high index of apoptosis
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• 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
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• 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
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• decreased sperm motility at 8 weeks of age
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• markedly reduced cell counts per seminiferous tubule at 8 weeks of age
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• missing layers and epithelial disorganization in seminiferous tubules at 8 weeks of age
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• severely reduced testis size at 8 weeks of age
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• severe reduction in testis weight at 8 weeks of age
• however, body weight is normal
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• decreased expression of spermatogenesis markers Stra8 (stimulated by retinoic acid gene 8) and Sycp3 (synaptonemal complex protein 3) in testes, indicating impaired spermatogenesis
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• decreased sperm concentration at 8 weeks of age
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• severe nuclear condensation and mitochondrial vacuolization in spermatocytes from 8-wk-old mice
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• male mice mated with wild-type female mice fail to produce offspring
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• decreased sperm concentration at 8 weeks of age
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• severe nuclear condensation and mitochondrial vacuolization in spermatocytes from 8-wk-old mice
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• 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
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• severe mitochondrial vacuolization in spermatocytes from 8-wk-old mice
• however, number of mitochondria is normal
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• 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
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• decreased sperm motility at 8 weeks of age
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• marked reduction in mitochondrial membrane potential in testicular cells, indicating mitochondria dysfunction
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• 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
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• 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
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• 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
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• markedly reduced cell counts per seminiferous tubule at 8 weeks of age
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• missing layers and epithelial disorganization in seminiferous tubules at 8 weeks of age
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• severely reduced testis size at 8 weeks of age
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• severe reduction in testis weight at 8 weeks of age
• however, body weight is normal
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• reduction in catalase activity in testes at 8 weeks of age
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice die by 4 months of age of uncertain causes
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• at P7, apoptosis in the external granule layer is increased compared to in wild-type mice
• however, no apoptosis in white mater is observed
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• 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
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• 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
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• white matter contains fewer proliferating cells than in wild-type mice without an increase in apoptosis from birth to P10
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• reduced 30% compared to in wild-type mice
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• cerebellar GABAergic interneurons in the molecular layer (mainly basket and stellate cells) are almost absent unlike in wild-type mice
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• 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)
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• adult mice are 75% the size and weight of wild-type mice
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• adult mice are 75% the size and weight of wild-type mice
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• mice exhibit progressive and mild ataxia accompanied by episodic spasms unlike wild-type mice
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| N |
• primary astrocytes show normal repair of DNA double strand breaks after bleomycin treatment
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• at P7, apoptosis in the external granule layer is increased compared to in wild-type mice
• however, no apoptosis in white mater is observed
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• 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)
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• 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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• 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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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
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last database update 04/09/2024 MGI 6.23 |
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