Symbol Name ID |
Scn8a
sodium channel, voltage-gated, type VIII, alpha MGI:103169 |
* | Aspects of the system are reported to show a normal phenotype. |
Darker colors indicate more annotations |
Human Phenotypes | Microcephaly |
Progressive microcephaly |
Cerebral atrophy |
Paroxysmal dyskinesia |
Multifocal epileptiform discharges |
EEG with spike-wave complexes |
Autistic behavior |
Compulsive behaviors |
Intellectual disability |
Intellectual disability, profound |
Intellectual disability, severe |
Epileptic encephalopathy |
Developmental regression |
Global developmental delay |
Motor delay |
Bilateral tonic-clonic seizure |
Bilateral tonic-clonic seizure with focal onset |
Focal impaired awareness seizure |
Generalized non-motor (absence) seizure |
Focal hemiclonic seizure |
Focal tonic seizure |
Generalized clonic seizure |
Febrile seizure (within the age range of 3 months to 6 years) |
Clonic seizure |
Epileptic spasm |
Tonic seizure |
Disease(s) Associated with SCN8A | ||||||||||||||||||||||||||
benign familial infantile seizures 5 | ||||||||||||||||||||||||||
developmental and epileptic encephalopathy 13 |
Mouse Phenotypes | nervous system phenotype |
decreased susceptibility to pharmacologically induced seizures |
seizures |
myoclonus |
abnormal spike wave discharge |
abnormal brain morphology |
abnormal cerebellum external granule cell layer morphology |
hydrocephaly |
enlarged brain ventricles |
Purkinje cell degeneration |
decreased Purkinje cell number |
decreased cerebellar granule cell number |
small cerebellum |
abnormal neuromuscular synapse morphology |
abnormal ventral spinal root morphology |
axon degeneration |
peripheral nervous system degeneration |
demyelination |
abnormal nervous system electrophysiology |
abnormal action potential |
abnormal nerve conduction |
decreased nerve conduction velocity |
abnormal neuron physiology |
abnormal endplate potential |
abnormal miniature endplate potential |
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Availability | Mouse Genotype | |||||||||||||||||||||||||
Scn8a5J/Scn8a5J | ||||||||||||||||||||||||||
Scn8a6J/Scn8a6J | * | |||||||||||||||||||||||||
Scn8a7J/Scn8a7J | ||||||||||||||||||||||||||
Scn8a8J/Scn8a8J | ||||||||||||||||||||||||||
Scn8a9J/Scn8a9J | ||||||||||||||||||||||||||
Scn8aClth/Scn8aClth | ||||||||||||||||||||||||||
Scn8admu/Scn8admu | * | |||||||||||||||||||||||||
Scn8amed-jo2J/Scn8amed-jo2J | ||||||||||||||||||||||||||
Scn8amed-jo/Scn8amed-jo | * | |||||||||||||||||||||||||
Scn8amed-TgA4Bs/Scn8amed-TgA4Bs | * | |||||||||||||||||||||||||
Scn8amed/Scn8amed | ||||||||||||||||||||||||||
Scn8a8J/Scn8a+ | ||||||||||||||||||||||||||
Scn8aem1Mm/Scn8a+ | ||||||||||||||||||||||||||
Scn8am10J/Scn8a+ | ||||||||||||||||||||||||||
Scn8amed-jo/Scn8a+ | ||||||||||||||||||||||||||
Scn8amed/Scn8a+ |
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 05/14/2024 MGI 6.23 |
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