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Symbol
Name
ID
Tsc2
TSC complex subunit 2
MGI:102548
Phenotype annotations related to nervous system
*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
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)
Tg(GFAP-cre)8Gtm/0
Tsc2tm1.1Mjg/Tsc2tm1.1Mjg  (conditional)
Tg(Pcp2-cre)2Mpin/0
Tsc2tm1.1Mjg/Tsc2tm1.1Mjg  (conditional)
Tg(Pcp2-cre)2Mpin/0
Tsc2tm1.1Mjg/Tsc2tm1.2Mjg  (conditional)

Contributing Projects:
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
The Jackson Laboratory