|
Symbol Name ID |
Scn1a
sodium channel, voltage-gated, type I, alpha MGI:98246 |
| * | Aspects of the system are reported to show a normal phenotype. |
| ! | Indicates phenotype varies with strain background. |
| Darker colors indicate more annotations |
| Human Phenotypes | Secondary microcephaly |
Drooling |
Photophobia |
Cortical dysplasia |
Cerebral atrophy |
Generalized cerebral atrophy/hypoplasia |
Dysgenesis of the hippocampus |
Hypoplastic hippocampus |
Global brain atrophy |
Arachnoid cyst |
Ataxia |
Progressive gait ataxia |
Incoordination |
Poor fine motor coordination |
Bradykinesia |
Parkinsonism |
Choreoathetosis |
Chorea |
Myoclonus |
Tremor |
Action tremor |
Abnormal pyramidal sign |
Hemiparesis |
Hemiplegia |
Interictal epileptiform activity |
EEG with focal epileptiform discharges |
Multifocal epileptiform discharges |
EEG with generalized epileptiform discharges |
EEG with spike-wave complexes |
EEG with spike-wave complexes (>3.5 Hz) |
Absent speech |
Anxiety |
Autistic behavior |
Obsessive-compulsive trait |
Impulsivity |
Motor stereotypy |
Phonophobia |
Cognitive impairment |
Mental deterioration |
Short attention span |
Intellectual disability, moderate |
Intellectual disability, profound |
Intellectual disability, severe |
Brisk reflexes |
Dystonia |
Inability to walk |
Hyperkinetic movements |
Epileptic encephalopathy |
Migraine with aura |
Developmental regression |
Global developmental delay |
Motor delay |
Seizure |
Bilateral tonic-clonic seizure |
Photosensitive tonic-clonic seizure |
Focal impaired awareness seizure |
Generalized non-motor (absence) seizure |
Atypical absence seizure |
Myoclonic absence seizure |
Focal-onset seizure |
Focal aware seizure |
Focal hemiclonic seizure |
Generalized-onset seizure |
Generalized clonic seizure |
Generalized myoclonic seizure |
Photosensitive myoclonic seizure |
Generalized tonic seizure |
Febrile seizure (within the age range of 3 months to 6 years) |
Complex febrile seizure |
Atonic seizure |
Epileptic spasm |
Myoclonic seizure |
Tonic seizure |
Visually-induced seizure |
Status epilepticus |
Epilepsia partialis continua |
Status epilepticus without prominent motor symptoms |
Atypical absence status epilepticus |
| Disease(s) Associated with SCN1A | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| developmental and epileptic encephalopathy 6B | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dravet syndrome | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| familial hemiplegic migraine 3 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| generalized epilepsy with febrile seizures plus | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| generalized epilepsy with febrile seizures plus 2 |
| Mouse Phenotypes | nervous system phenotype |
increased susceptibility to pharmacologically induced seizures |
seizures |
maximal tonic hindlimb extension seizures |
environmentally induced seizures |
convulsive seizures |
clonic seizures |
tonic seizures |
tonic-clonic seizures |
abnormal spike wave discharge |
decreased brain weight |
decreased brain size |
abnormal hippocampus granule cell morphology |
abnormal hippocampus neuron morphology |
abnormal neocortex morphology |
abnormal cerebellar molecular layer |
abnormal dendrite morphology |
abnormal dendritic spine morphology |
abnormal nervous system electrophysiology |
abnormal action potential |
impaired ability to fire action potentials |
abnormal brain wave pattern |
abnormal neuron physiology |
abnormal synaptic transmission |
abnormal GABA-mediated receptor currents |
increased excitatory postsynaptic current frequency |
abnormal inhibitory postsynaptic currents |
abnormal miniature excitatory postsynaptic currents |
abnormal miniature inhibitory postsynaptic currents |
decreased paired-pulse ratio |
|
| Availability | Mouse Genotype | ||||||||||||||||||||||||||||||
| Scn1aem1Anord/Scn1aem1Anord | |||||||||||||||||||||||||||||||
| Scn1atm1.1Aesc/Scn1atm1.1Aesc | * | ||||||||||||||||||||||||||||||
| Scn1atm1.1Swl/Scn1atm1.1Swl | |||||||||||||||||||||||||||||||
| Scn1atm1Kzy/Scn1atm1Kzy | |||||||||||||||||||||||||||||||
| Scn1atm1Wac/Scn1atm1Wac | |||||||||||||||||||||||||||||||
| Scn1atm2.2Kzy/Scn1atm2.2Kzy | |||||||||||||||||||||||||||||||
| Scn1aem1Anord/Scn1a+ | |||||||||||||||||||||||||||||||
| Scn1atm1.1Aesc/Scn1a+ | |||||||||||||||||||||||||||||||
| Scn1atm1.1Kzy/Scn1a+ | |||||||||||||||||||||||||||||||
| Scn1atm1.1Swl/Scn1a+ | |||||||||||||||||||||||||||||||
| Scn1atm1Kea/Scn1a+ | ! | ||||||||||||||||||||||||||||||
| Scn1atm1Kzy/Scn1a+ | |||||||||||||||||||||||||||||||
| Scn1atm1Wac/Scn1a+ | |||||||||||||||||||||||||||||||
| Scn1atm2.2Kzy/Scn1a+ | |||||||||||||||||||||||||||||||
| Tg(Scn1a*)RH9Aesc/0 | |||||||||||||||||||||||||||||||
| Scn1atm2.1Kzy/Scn1atm2.1Kzy Tg(Slc32a1-cre)65Kzy/0 (conditional) |
|||||||||||||||||||||||||||||||
| Emx1tm1.1(cre)Ito/Emx1+ Scn1atm2.1Kzy/Scn1atm2.1Kzy (conditional) |
|||||||||||||||||||||||||||||||
| Emx1tm1.1(cre)Ito/Emx1+ Scn1atm2.1Kzy/Scn1atm2.1Kzy Tg(Slc32a1-cre)65Kzy/0 (conditional) |
|||||||||||||||||||||||||||||||
| Scn1atm2.1Kzy/Scn1atm2.1Kzy Tg(Pvalb-cre)1Tama/0 (conditional) |
|||||||||||||||||||||||||||||||
| Scn1atm2.1Kzy/Scn1a+ Tg(Slc32a1-cre)65Kzy/0 (conditional) |
|||||||||||||||||||||||||||||||
| Scn1atm2.1Kzy/Scn1a+ Tg(Pvalb-cre)1Tama/0 (conditional) |
|||||||||||||||||||||||||||||||
| Scn1atm2.1Wac/Scn1a+ Tg(I12b-cre)1Jlr/0 (conditional) |
|||||||||||||||||||||||||||||||
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
||
|
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support. |
last database update 04/23/2024 MGI 6.23 |
|
|
|
||
Analysis Tools