ZFIN ID: ZDB-GENE-000828-1
Gene Name: sodium channel, voltage gated, type VIII, alpha subunit a
Gene Symbol: scn8aa    Nomenclature History

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Previous Names: scn8a, zscn4 (1), Nav1.6 (1)

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(Including Attributions)
Gene Type: protein_coding_gene
Location: Chr: 23 Mapping Details/Browsers
Description: Exhibits voltage-gated sodium channel activity. Involved in several processes, including larval locomotory behavior; mechanosensory behavior; and motor neuron axon guidance. Predicted to localize to axon and voltage-gated sodium channel complex. Is expressed in heart; nervous system; otic vesicle; and trigeminal placode. Human ortholog(s) of this gene implicated in benign familial neonatal epilepsy and early infantile epileptic encephalopathy 13. Orthologous to human SCN8A (sodium voltage-gated channel alpha subunit 8).
Genome Resources: Alliance (1),  Gene:58152 (1),  Ensembl(GRCz11):ENSDARG00000005775 (2)
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Allele Type Localization Consequence Mutagen Suppliers
la022612Tg Transgenic Insertion Unknown Unknown DNA
  • Zebrafish International Resource Center (ZIRC) (order this)
  • la028527Tg Transgenic Insertion Unknown Unknown DNA
    mi89 Point Mutation Unknown Unknown ENU
    mi130 Point Mutation Unknown Missense ENU
    sa12919 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa31090 Point Mutation Unknown Splice Site ENU
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa37728 Point Mutation Unknown Splice Site ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa43994 Point Mutation Unknown Splice Site ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • tW1752X Point Mutation Exon 9 Premature Stop ENU
    Sequence Targeting Reagents
    Targeting Reagent Created Alleles Publications
    MO1-scn8aa N/A 5
    MO2-scn8aa N/A 2
    MO3-scn8aa N/A 1
    MO4-scn8aa N/A 3
    MO5-scn8aa N/A 1
    MO6-scn8aa N/A 1
    MO7-scn8aa N/A 1
    DISEASE ASSOCIATED WITH scn8aa HUMAN ORTHOLOG
    Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
    early infantile epileptic encephalopathy 13 Alliance Epileptic encephalopathy, early infantile, 13 614558
    Cognitive impairment with or without cerebellar ataxia 614306
    Seizures, benign familial infantile, 5 617080
    ?Myoclonus, familial, 2 618364
    DISEASE ASSOCIATED WITH scn8aa VIA EXPERIMENTAL MODELS No data available
    GENE ONTOLOGY
    Ontology GO Term
    Biological Process sodium ion transmembrane transport (more)
    Cellular Component integral component of plasma membrane (more)
    Molecular Function voltage-gated sodium channel activity (more)
    GO Terms (all 21)
    PROTEIN FAMILIES, DOMAINS AND SITES No links to external sites available
    TRANSCRIPTS
    Type Name Length (nt) Analysis
    mRNA scn8aa-201 (1)    Ensembl 6814
    Browsers: UCSCNCBIEnsemblZFIN
    INTERACTIONS AND PATHWAYS
    ANTIBODIES No data available
    PLASMIDS No data available
    CONSTRUCTS WITH SEQUENCES FROM scn8aa
    Construct Regulatory Regions Coding Sequences Species Tg Lines Publications
    Tg(scn8aa:EGFP) scn8aa EGFP Danio rerio 1 4
    MARKER RELATIONSHIPS
    scn8aa Contained in: [BAC] DKEY-9P24 (1) (order this)
    SEQUENCE INFORMATION
    Type Accession # Length (nt/aa) Analysis
    RNA RefSeq:NM_131628 (1) 6814 nt
    Genomic GenBank:CR376824 (1) 235026 nt Blast at MegaBLAST
    Polypeptide UniProtKB:A0A2R8QLY1 (1) 1949 aa
    Sequence Information (all 22)
    ORTHOLOGY for scn8aa ( Chr: 23 )
    CITATIONS (48)