Scn1a encodes the large alpha subunit of the type I voltage sensitive sodium channel essential for the generation and propagation of action potentials in nerve and muscle. Several mutations in the domain IV S6 transmembrane region, including A1783V, are associated with SMEI (severe myoclonic epilepsy in infancy) and Dravet Syndrome, a convulsive disorder with psychomotor delay, ataxia, and cognitive impairment. 

When these conditional Scn1a mice are bred to mice that express cre recombinase, resulting offspring express the A1783V mutation in the cre-expressing tissues. Depending on the genetic background of the cre line used, mice display a lethal seizure phenotype at about three weeks of age: greater than 80% of heterozygotes survive with a ubiquitous cre on a 129 background, but less than 40% survive on a pure B6 background. Viable mice exhibit spontaneous seizures, motor stereotypies, and hyperactivity. This strain may be useful for studying SMEI and Dravet Syndrome.

These conditional Scn1a-A1783V mice express the Dravet Syndrome/SMEI-associated mutation A1783V in the presence of Cre recombinase, and exhibit Dravet-like phenotypes including spontaneous seizures. Of note, this strain is "open access", and available to for-profit organizations.

Typically mice are recovered in 12-16 weeks. Contact Customer Service to place an order or for more information.

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