|
Symbol Name ID |
Tsc2
TSC complex subunit 2 MGI:102548 |
| * | Aspects of the system are reported to show a normal phenotype. |
| Darker colors indicate more annotations |
| Human Phenotypes | Cerebellar hemorrhage |
Cerebellar calcifications |
Cerebral calcification |
Astrocytoma |
Subependymal giant-cell astrocytoma |
Ependymoma |
Optic nerve glioma |
Abnormal cranial nerve morphology |
Hydrocephalus |
Subependymal nodules |
Cortical tubers |
Hemimegalencephaly |
Cerebellar cyst |
Spinal cord tumor |
Medulloblastoma |
Cerebellar medulloblastoma |
Neuroblastoma |
Ataxia |
Cerebellar ataxia associated with quadrupedal gait |
Dysmetria |
Progressive cerebellar ataxia |
Intention tremor |
Increased intracranial pressure |
Irritability |
Lethargy |
Autism |
Attention deficit hyperactivity disorder |
Cognitive impairment |
Intellectual disability |
Abnormal brain FDG positron emission tomography |
Headache |
Global developmental delay |
Specific learning disability |
Seizure |
Epileptic spasm |
Infantile spasms |
| Disease(s) Associated with TSC2 | ||||||||||||||||||||||||||||||||||||
| lymphangioleiomyomatosis | ||||||||||||||||||||||||||||||||||||
| medulloblastoma | ||||||||||||||||||||||||||||||||||||
| tuberous sclerosis 2 |
| Mouse Phenotypes | nervous system phenotype |
seizures |
environmentally induced seizures |
incomplete rostral neuropore closure |
open neural tube |
increased brain weight |
increased brain size |
abnormal hippocampus pyramidal cell morphology |
abnormal cerebellum morphology |
abnormal Purkinje cell morphology |
Purkinje cell degeneration |
astrocytosis |
abnormal dendrite morphology |
abnormal dendritic spine morphology |
enhanced long-term potentiation |
reduced long-term depression |
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| Availability | Mouse Genotype | ||||||||||||||||
| Tsc2tm1Mjg/Tsc2tm1Mjg | |||||||||||||||||
| Tsc2tm1Tno/Tsc2tm1Tno | |||||||||||||||||
| Tsc2tm2.2Djk/Tsc2tm2.2Djk | * | ||||||||||||||||
| Tsc2tm1Djk/Tsc2+ | * | ||||||||||||||||
| Tsc2tm1Tno/Tsc2+ | * | ||||||||||||||||
| Tg(CMV-Tsc2*)1Arbi/0 | |||||||||||||||||
| Tsc2tm1.1Kcess/Tsc2tm1.1Kcess Emx1tm1(cre)Krj/Emx1+ (conditional) |
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| Tg(GFAP-cre)8Gtm/0 Tsc2tm1.1Mjg/Tsc2tm1.1Mjg (conditional) |
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| Tg(Pcp2-cre)2Mpin/0 Tsc2tm1.1Mjg/Tsc2tm1.1Mjg (conditional) |
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| Tg(Pcp2-cre)2Mpin/0 Tsc2tm1.1Mjg/Tsc2tm1.2Mjg (conditional) |
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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 05/28/2024 MGI 6.13 |
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