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Allele Symbol Allele Name Allele ID |
Tsc1tm1Chdl targeted mutation 1, Jeremy P Cheadle MGI:3584174 |
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| Summary |
6 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice die between E10.5 and E13.5
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• at E11.5, embryos are severely apoptotic unlike wild-type mice
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• at E11.5, embryos are severely apoptotic unlike wild-type mice
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• died between E10.5 and E12.5
• no viable null embryos were observed at E13.5
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• generally smaller and developmentally retarded
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• generally smaller and developmentally retarded
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• two out of 12 null embryos displayed exencephaly
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• at E12.5, two out of 2 null embryos had abnormal vacuolation of myocardial cells
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• renal lesion classified as cysts, atypical cysts, branching cysts, mixed cystic/solid carcinomas or solid carcinomas developed 15-18 month
• onset and frequency are less severe compared to background involving C3H
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• renal lesion classified as cysts, atypical cysts, branching cysts, mixed cystic/solid carcinomas or solid carcinomas developed 15-18 month
• onset and frequency are less severe compared to background involving C3H
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• 80% of mice with solid renal cell carcinoma (RCC) by 15-18 month
• many RCC were larger than 5 mm which resulted in grossly deformed kidney
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• hemangioma consisted of abnormal vascular channels and smooth muscle are found 18% of 15-18 month mice
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• renal lesion classified as cysts, atypical cysts, branching cysts, mixed cystic/solid carcinomas or solid carcinomas developed 15-18 month
• onset and frequency are less severe compared to background involving C3H
|
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• 80% of mice with solid renal cell carcinoma (RCC) by 15-18 month
• many RCC were larger than 5 mm which resulted in grossly deformed kidney
|
|
• renal lesion classified as cysts, atypical cysts, branching cysts, mixed cystic/solid carcinomas or solid carcinomas developed 15-18 month
• onset and frequency are less severe compared to background involving C3H
|
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• hemangioma consisted of abnormal vascular channels and smooth muscle are found 18% of 15-18 month mice
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| tuberous sclerosis | DOID:13515 |
OMIM:PS191100 |
J:99796 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• renal lesion classified as cysts, atypical cysts, branching cysts, mixed cystic/solid carcinomas or solid carcinomas developed 15-18 month
• onset and frequency are more severe compared to background not involving C3H
|
|
• solid renal cell carcinoma (RCC) by 15-18 month
• RCC which is larger than 5 mm were less frequently found compared to background not involving Balb/c
|
|
• hemangioma consisted of abnormal vascular channels and smooth muscle are found 18% of 15-18 month mice
|
|
• solid renal cell carcinoma (RCC) by 15-18 month
• RCC which is larger than 5 mm were less frequently found compared to background not involving Balb/c
|
|
• hemangioma consisted of abnormal vascular channels and smooth muscle are found 18% of 15-18 month mice
|
|
• renal lesion classified as cysts, atypical cysts, branching cysts, mixed cystic/solid carcinomas or solid carcinomas developed 15-18 month
• onset and frequency are more severe compared to background not involving C3H
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| tuberous sclerosis | DOID:13515 |
OMIM:PS191100 |
J:99796 | |
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• Background Sensitivity: background sensitive partial lethality among heterozygotes before weaning
• of those that died prematurely, most died at 1-2 days after birth and the rest by 2 weeks after birth of unknown causes
• in 10 mice that died prematurely, no morphological abnormalities in the heart, kidneys, liver, digestive tract, thymus, or pancreas were found by histological analysis
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|
• renal lesion classified as cysts, atypical cysts, branching cysts, mixed cystic/solid carcinomas or solid carcinomas developed by 15-18 month
• onset and frequency are less severe compared to other background involving Balb/c or C3H
|
|
• renal lesion classified as cysts, atypical cysts, branching cysts, mixed cystic/solid carcinomas or solid carcinomas developed by 15-18 month
• onset and frequency are less severe compared to other background involving Balb/c or C3H
|
|
• solid renal cell carcinoma (RCC) by 15-18 month
• RCC which is larger than 5 mm were less frequently found compared to background not involving Balb/c
|
|
• hemangioma consisted of abnormal vascular channels and smooth muscle are found 18% of 15-18 month mice
|
|
• renal lesion classified as cysts, atypical cysts, branching cysts, mixed cystic/solid carcinomas or solid carcinomas developed by 15-18 month
• onset and frequency are less severe compared to other background involving Balb/c or C3H
|
|
• solid renal cell carcinoma (RCC) by 15-18 month
• RCC which is larger than 5 mm were less frequently found compared to background not involving Balb/c
|
|
• hemangioma consisted of abnormal vascular channels and smooth muscle are found 18% of 15-18 month mice
|
|
• renal lesion classified as cysts, atypical cysts, branching cysts, mixed cystic/solid carcinomas or solid carcinomas developed by 15-18 month
• onset and frequency are less severe compared to other background involving Balb/c or C3H
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| tuberous sclerosis | DOID:13515 |
OMIM:PS191100 |
J:99796 | |
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• mice die between E15.5 and birth unlike Tsc1tm1Chdl heterozygotes which die between E10.5 and E13.5
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• at E15.5
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• at E15.5
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• in E15.5 embryos
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• in E15.5 embryos
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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 05/07/2024 MGI 6.23 |
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