|
Symbol Name ID |
Smarcb1
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 MGI:1328366 |
| * | Aspects of the system are reported to show a normal phenotype. |
| Darker colors indicate more annotations |
| Human Phenotypes | Dandy-Walker malformation |
Microcephaly |
Facial palsy |
Dysphagia |
Vestibular schwannoma |
Bilateral vestibular schwannoma |
Unilateral vestibular schwannoma |
Neoplasm of the anterior pituitary |
Neurofibroma |
Peripheral schwannoma |
Cerebral calcification |
Astrocytoma |
Glioma |
Ependymoma |
Neuroma |
Schwannoma |
Brain stem compression |
Choroid plexus carcinoma |
Hydrocephalus |
Abnormal corpus callosum morphology |
Abnormal cerebellum morphology |
Cerebellar hypoplasia |
Meningioma |
Intracranial meningioma |
Optic nerve sheath meningioma |
Spinal meningioma |
Myelopathy |
Spinal cord tumor |
Malignant neoplasm of the central nervous system |
Medulloblastoma |
Ataxia |
Cerebral palsy |
Fasciculations |
Hemiplegia/hemiparesis |
Hemiparesis |
Cranial nerve paralysis |
Aphasia |
Dysarthria |
Irritability |
Apathy |
Personality changes |
Memory impairment |
Intellectual disability |
Reduced consciousness |
Unsteady gait |
Postural instability |
Headache |
Migraine |
Global developmental delay |
Peripheral neuropathy |
Mononeuropathy |
Polyneuropathy |
Sensory neuropathy |
Seizure |
Somatic sensory dysfunction |
Hyperesthesia |
Hypoesthesia |
Paresthesia |
| Disease(s) Associated with SMARCB1 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| atypical teratoid rhabdoid tumor | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Coffin-Siris syndrome 3 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| schwannomatosis | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| schwannomatosis 1 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| vestibular schwannomatosis |
| Mouse Phenotypes | nervous system phenotype |
abnormal cerebellar granule cell migration |
increased brain tumor incidence |
obstructive hydrocephaly |
cerebral aqueductal stenosis |
enlarged brain ventricles |
dilated lateral ventricle |
abnormal brain white matter morphology |
abnormal corpus callosum morphology |
thin cerebral cortex |
abnormal cerebellar Purkinje cell layer |
axon degeneration |
demyelination |
decreased prepulse inhibition |
|
| Availability | Mouse Genotype | ||||||||||||||
| Smarcb1em1Koke/Smarcb1em1Koke | * | ||||||||||||||
| Smarcb1tm1b(EUCOMM)Hmgu/Smarcb1+ | |||||||||||||||
| Smarcb1tm1Gvk/Smarcb1+ | |||||||||||||||
| Smarcb1tm2Sho/Smarcb1tm2Sho Tg(GFAP-cre)#Gtm/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 04/23/2024 MGI 6.23 |
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