|
Symbol Name ID |
Tsc1
TSC complex subunit 1 MGI:1929183 |
| * | Aspects of the system are reported to show a normal phenotype. |
| Darker colors indicate more annotations |
| Human Phenotypes | Cerebral calcification |
Astrocytoma |
Ependymoma |
Optic nerve glioma |
Hydrocephalus |
Subependymal nodules |
Cortical tubers |
Hemimegalencephaly |
Autism |
Attention deficit hyperactivity disorder |
Cognitive impairment |
Intellectual disability |
Specific learning disability |
Seizure |
Epileptic spasm |
Infantile spasms |
| Disease(s) Associated with TSC1 | ||||||||||||||||
| lymphangioleiomyomatosis | ||||||||||||||||
| tuberous sclerosis 1 |
| Mouse Phenotypes | nervous system phenotype |
seizures |
sporadic seizures |
increased neuron apoptosis |
abnormal neuron differentiation |
open neural tube |
abnormal nervous system morphology |
abnormal brain morphology |
increased brain weight |
increased brain size |
abnormal dentate gyrus morphology |
abnormal hippocampus pyramidal cell layer |
abnormal hippocampus pyramidal cell morphology |
abnormal hippocampus region morphology |
abnormal cerebral cortex morphology |
abnormal neocortex morphology |
abnormal cerebellar Purkinje cell layer |
abnormal Purkinje cell morphology |
abnormal Purkinje cell axon morphology |
abnormal Purkinje cell dendrite morphology |
decreased Purkinje cell number |
astrocytosis |
exencephaly |
abnormal neuron morphology |
abnormal dendrite morphology |
neuron hypertrophy |
abnormal nervous system physiology |
abnormal astrocyte physiology |
abnormal myelination |
abnormal brain wave pattern |
abnormal single cell response |
reduced long-term potentiation |
|
| Availability | Mouse Genotype | ||||||||||||||||||||||||||||||||
| Tsc1tm1Chdl/Tsc1tm1Chdl | |||||||||||||||||||||||||||||||||
| Tsc1tm1Hin/Tsc1tm1Hin | |||||||||||||||||||||||||||||||||
| Tsc1tm1Djk/Tsc1tm1Djk Tg(GFAP-cre)8Gtm/0 (conditional) |
* | ||||||||||||||||||||||||||||||||
| Tsc1tm1Djk/Tsc1tm1Djk Tg(Syn1-cre)671Jxm/0 (conditional) |
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| Tsc1tm1Djk/Tsc1tm1Djk Tg(Camk2a-cre)#Szi/0 (conditional) |
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| Tsc1tm1Djk/Tsc1tm1Djk Tg(GFAP-cre)#Gtm/0 (conditional) |
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| Tsc1tm1Djk/Tsc1tm1Djk Tg(Pcp2-cre)2Mpin/0 (conditional) |
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| Tsc1tm1Djk/Tsc1+ Tg(Pcp2-cre)2Mpin/0 (conditional) |
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| Tsc1tm1Djk/Tsc1tm1.1Djk Tg(Syn1-cre)671Jxm/0 (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 05/21/2024 MGI 6.23 |
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