Symbol
Name
ID

Scn8a
sodium channel, voltage-gated, type VIII, alpha
MGI:103169

Phenotype annotations related to nervous system

*	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

Availability

Mouse Genotype

Scn8a^5J/Scn8a^5J

Scn8a^6J/Scn8a^6J

Scn8a^7J/Scn8a^7J

Scn8a^8J/Scn8a^8J

Scn8a^9J/Scn8a^9J

Scn8a^Clth/Scn8a^Clth

Scn8a^dmu/Scn8a^dmu

Scn8a^med-jo2J/Scn8a^med-jo2J

Scn8a^med-jo/Scn8a^med-jo

Scn8a^med-TgA4Bs/Scn8a^med-TgA4Bs

Scn8a^med/Scn8a^med

Scn8a^8J/Scn8a⁺

Scn8a^em1Mm/Scn8a⁺

Scn8a^m10J/Scn8a⁺

Scn8a^med-jo/Scn8a⁺

Scn8a^med/Scn8a⁺

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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