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Allele Symbol Allele Name Allele ID |
Tdp1Gt(XD105)Byg gene trap XD105, BayGenomics MGI:3818340 |
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| Summary |
3 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• following exposure to methylmethanesulphonate, astrocytes accumulate unrepaired DNA damage compared with wild-type cells
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• following exposure to methylmethanesulphonate, astrocytes accumulate unrepaired DNA damage compared with wild-type cells
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• unlike patients with SCAN1, mice up to 17 months of age do not exhibit any behavioral abnormalities
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• mouse embryonic fibroblasts and neurospheres are more sensitive to camptothecin than wild-type cells
• mice treated with camptothecin-11 or topotecan exhibit weakness and diarrhea within 2 days of completion of administration unlike wild-type mice
• following treatment with camptothecin-11 or topotecan, mice exhibit extensive necrosis of the slowly proliferating intestinal, renal and hepatic tissues, and extensive apoptosis and loss of rapidly proliferating lymphoid and hematopoietic tissues compared to in similarly treated wild-type mice
• following treatment with camptothecin-11 or topotecan, mice exhibit electrophysiological changes, prolonged distal latencies and reduced compound muscle action potentials compared to in similarly treated wild-type mice
• mice and embryonic fibroblasts are hypersensitive to bleomycin but not etoposide
• however, mice treated with camptothecin-11 or topotecan fail to exhibit ataxia or neuropathy as in SCAN1 patients and non-proliferating neural cells are resistant to acute toxicity of Topo I DNA complexes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• at 7, 13 and 17 months cerebellar size is reduced 6%, 10% and 15%, respectively, compared to in wild-type mice
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• neural cells exhibit defective repair of single strand DNA break induced by camptothecin and are slower to recover following withdrawal of hydrogen peroxide or irradiation treatments compared to wild-type cells
• however, double strand DNA repair is normal
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| N |
• unlike human patients with SCAN1, mice exhibit normal cholesterol levels
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• neural cells exhibit defective repair of single strand DNA break induced by camptothecin and are slower to recover following withdrawal of hydrogen peroxide or irradiation treatments compared to wild-type cells
• however, double strand DNA repair is normal
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• following treatment with topotecan, mice exhibit disorganization and reduction in numbers of PCNA+ cells in the lower crypt, reduced brain size secondary to substantial weight loss, reduced spleen and thymus size associated with the near total loss of double positive immature T cells and increased apoptosis of mature T cell, reduction in B220lowCD43- pre-mature B cells and loss of c-Kit+ hematopoietic progenitor cells unlike similarly treated wild-type mice
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• neural cells exhibit defective repair of single strand DNA break induced by camptothecin and are slower to recover following withdrawal of hydrogen peroxide or irradiation treatments compared to wild-type cells
• however, double strand DNA repair is normal
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| N |
• unlike human patients with SCAN1, mice do not display ataxia
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| spinocerebellar ataxia with axonal neuropathy 1 | DOID:0090115 |
OMIM:607250 |
J:127605 | |
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 04/16/2024 MGI 6.23 |
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