Analysis Tools|
Allele Symbol Allele Name Allele ID |
Tsc2tm1.2Mjg targeted mutation 1.2, Michael J Gambello MGI:3712064 |
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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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• most embryos display midgestation lethality similar to published reports
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• embryos show severe growth retardation (E12.5)
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• embryos show severe growth retardation (E12.5)
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• within first year, lesions consisting of renal cysts are found in some heterozygotes, similar to previous reports of heterozygous mice
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• with first year of life, frank tumors are observed in the kidneys; cystadenomas and renal tumors with abnormal giant cells are observed
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• within first year, lesions consisting of renal cysts are found in some heterozygotes, similar to previous reports of heterozygous mice
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• 10% of mutants exhibit spontaneous deaths before weaning; cause of death is unknown
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• Purkinje cells are larger than in wild-type mice
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• mutants exhibit Purkinje cell loss beginning at one month of age which becomes progressively more pronounced over time
• by 7 months of age, mutants lose more Purkinje cells than Tsc2tm1.1Mjg/Tsc2tm1.1Mjg Tg(Pcp2-cre)2Mpin/0 mice
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| tuberous sclerosis | DOID:13515 |
OMIM:PS191100 |
J:174327 | |
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 09/30/2025 MGI 6.24 |
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