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Symbol Name ID |
Smarcc1
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1 MGI:1203524 |
| Darker colors indicate more annotations |
| Human Phenotypes | Dandy-Walker malformation |
Posterior fossa cyst |
Microcephaly |
Spasticity |
Spastic paraplegia |
Colpocephaly |
Aqueductal stenosis |
Hydrocephalus |
Communicating hydrocephalus |
Ventriculomegaly |
Abnormal cortical gyration |
Lissencephaly |
Simplified gyral pattern |
Small cerebral cortex |
Agenesis of corpus callosum |
Absent septum pellucidum |
Cerebellar vermis hypoplasia |
Holoprosencephaly |
Corticospinal tract hypoplasia |
Gray matter heterotopia |
Hemiplegia/hemiparesis |
Increased intracranial pressure |
Intellectual disability |
Intellectual disability, severe |
Motor delay |
Seizure |
| Disease(s) Associated with SMARCC1 | ||||||||||||||||||||||||||
| hydrocephalus |
| Mouse Phenotypes | abnormal embryonic neuroepithelial layer differentiation |
abnormal lateral ventricle morphology |
abnormal third ventricle morphology |
abnormal forebrain morphology |
abnormal diencephalon morphology |
abnormal telencephalon morphology |
exencephaly |
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| Availability | Mouse Genotype | |||||||
| Smarcc1tm1Rhs/Smarcc1+ | ||||||||
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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