Mine Disruption Phenotype

Gene Info

  • Species: Mouse (Mus musculus)
  • GeneID: 20265
  • Symbol: Scn1a
  • Description: sodium channel, voltage-gated, type I, alpha
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Gene ID Entry Entry Name Protein Name Type Information
20265 A2APX8 SCN1A_MOUSE Sodium channel protein type 1 subunit alpha (Sodium channel protein brain I subunit alpha) (Sodium channel protein type I subunit alpha) (Voltage-gated sodium channel subunit alpha Nav1.1) DISRUPTION PHENOTYPE Homozygous mice display severe seizures and premature death on postnatal day 15 (PubMed:16921370). Mice show severe motor deficits, including irregularity of stride length during locomotion, impaired motor reflexes in grasping and mild tremor in limbs when immobile, consistent with cerebellar dysfunction (PubMed:16921370). Heterozygous mice exhibit autistic-like behavior, characterized by hyperactivity, stereotyped behaviors, social interaction deficits and impaired context-dependent spatial memory (PubMed:22914087). Defects are caused by caused by impaired GABAergic neurotransmission (PubMed:22914087). Conditional knockout in forebrain GABAergic neurons leads to premature death caused by generalized tonic-clonic seizures in heterozygous mice (PubMed:22908258). {ECO:0000269|PubMed:16921370, ECO:0000269|PubMed:22908258, ECO:0000269|PubMed:22914087}.