Analysis Tools|
Allele Symbol Allele Name Allele ID |
Tsc2tm1.1Mjg targeted mutation 1.1, Michael J Gambello MGI:3712063 |
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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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• mice are viable and fertile with apparent normal behavior
• no abnormalities are observed in cerebral cortex, hippocampus, cerebellum, lungs, liver, or kidneys relative to littermate controls
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• the medial cortex is partially restored compared to in Mpp5tm1Caw/Mpp5tm1Caw Emx1tm1(cre)Krj/Emx1+ mice
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mutants show complete or partial loss of germ cells
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• adult Sertoli cells show disruption of cell cycle quiescence and thus increased proliferation in mice older than 4 months of age
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• mutants show complete or partial loss of germ cells
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• testicular junction integrity is compromised
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• adult Sertoli cells show disruption of cell cycle quiescence and thus increased proliferation in mice older than 4 months of age
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• mutants show complete or partial loss of germ cells and tubules with only Sertoli cells
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• testes show vacuolization of seminiferous epithelium
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• Sertoli cells show disruption of the spoke-like pattern of microtubules and loss of apical extensions, and disruption of actin filament arrangement, indicating disruption of polarity
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• in adults
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• in adults
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• immature round germ cells are seen in the epididymides whereas only mature elongated germ cells are seen in controls
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• testicular junction integrity is compromised
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• adult Sertoli cells show disruption of cell cycle quiescence and thus increased proliferation in mice older than 4 months of age
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• mutants show complete or partial loss of germ cells and tubules with only Sertoli cells
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• testes show vacuolization of seminiferous epithelium
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• Sertoli cells show disruption of the spoke-like pattern of microtubules and loss of apical extensions, and disruption of actin filament arrangement, indicating disruption of polarity
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• in adults
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• in adults
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice exhibit myometrial overgrowth, developing tumors consistent with leiomyomas by 24 weeks of age
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• increase in endometrial proliferation, with more endometrial glands and irregular luminal epithelium in uteri
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• increase in myometrial proliferation at 12 weeks of age
• myometrium is thickened with rough borders and irregular, disoriented cells
• ovariectomy in 4 week old mice prevents abnormal uterine growth and estrogen stimulates myometrial proliferation in ovariectomized females
• treatment with aromatase inhibitor, letrozole, for 8 weeks starting at 4 weeks of age, reduces myometrial proliferation
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• starting at 6 weeks of age, mice start to show uterine enlargement, and uterine size and weight are larger at 12 weeks of age
• treatment with rapamycin at 4 weeks of age for 8 weeks completely prevents abnormal growth in the uterus
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• at 12 weeks of age
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• mice exhibit myometrial overgrowth, developing tumors consistent with leiomyomas by 24 weeks of age
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• tumors in the lungs originate from the lymphatics, suggesting that lung tumors are metastatic from the uterus
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• most females that reach 31 weeks of age or older exhibit myometrial tumors in the lungs, suggesting lymphangioleiomyomatosis
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• 24 week old mice show appreciably larger uteri, with continued endometrial overgrowth and internal bleeding
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• mice exhibit myometrial overgrowth, developing tumors consistent with leiomyomas by 24 weeks of age
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• most females that reach 31 weeks of age or older exhibit myometrial tumors in the lungs, suggesting lymphangioleiomyomatosis
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| uterine fibroid | DOID:13223 |
OMIM:150699 |
J:221228 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mutants are ataxic at 3 months of age
• treatment of mutants with rapamycin rescues the ataxic gait
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• mutants exhibit rotarod defects, falling off the rotarod sooner than controls
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• mutants take wider steps than control mice
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• Purkinje cells exhibit apoptotic cell death and increased ER and oxidative stress
• treatment of mutants with rapamycin rescues Purkinje cell death and alleviates ER stress
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• mutants progressively lose Purkinje cells beginning at one month of age
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| tuberous sclerosis | DOID:13515 |
OMIM:PS191100 |
J:174327 | |
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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 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• 50% mortality around 7 weeks of age and 100% mortality by 10 weeks
• live shorter than Tsc1tm1Djk/Tsc1tm1Djk Tg(GFAP-cre)8Gtm/0 mice
• prolonged survival after rapamycin treatment
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• poor weight gain
• improved weight gain after rapamycin treatment
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• seizures at around 2-3 weeks of life
• occasional seizures at 3 weeks of age, earlier onset than Tsc1tm1Djk/Tsc1tm1Djk Tg(GFAP-cre)8Gtm/0 mice
• become progressively more frequent over the ensuing month
• have more seizures than Tsc1tm1Djk/Tsc1tm1Djk Tg(GFAP-cre)8Gtm/0 mice
• fewer seizures after rapamycin treatment
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• gross, generalized megencephaly
• rapamycin decreases the megencephaly
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• increased brain weight starting at 3 weeks of age
• become progressively more obvious with time
• more severe than Tsc1tm1Djk/Tsc1tm1Djk Tg(GFAP-cre)8Gtm/0 mice
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• progressive neuronal disorganization in hippocampus with a dispersion of the pyramidal cell layer
• more severe than Tsc1tm1Djk/Tsc1tm1Djk Tg(GFAP-cre)8Gtm/0 mice
• greater CA1 pyramidal cell layer width in hippocampus than Tsc1tm1Djk/Tsc1tm1Djk Tg(GFAP-cre)8Gtm/0 mice
• rapamycin reduces the dispersion of the pyramidal cell layer in hippocampus
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• progressive increase in astrocyte number diffusely throughout the brain
• most obviously in neocortex and hippocampus
• detectable as early as 1 week of life, earlier onset than Tsc1tm1Djk/Tsc1tm1Djk Tg(GFAP-cre)8Gtm/0 mice
• progressively more severe beyond 3 weeks of age
• more severe than Tsc1tm1Djk/Tsc1tm1Djk Tg(GFAP-cre)8Gtm/0 mice
• rapamycin decreases the proliferation of astrocytes
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• seizures at around 2-3 weeks of life
• occasional seizures at 3 weeks of age, earlier onset than Tsc1tm1Djk/Tsc1tm1Djk Tg(GFAP-cre)8Gtm/0 mice
• become progressively more frequent over the ensuing month
• have more seizures than Tsc1tm1Djk/Tsc1tm1Djk Tg(GFAP-cre)8Gtm/0 mice
• fewer seizures after rapamycin treatment
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| tuberous sclerosis | DOID:13515 |
OMIM:PS191100 |
J:167241 | |
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 12/10/2024 MGI 6.24 |
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