These Gabrg2+/Q390X knock-in mice carry a nonsense mutation in exon 9 of the gamma-aminobutyric acid (GABA) A receptor, subunit gamma 2 (Gabrg2) gene. Gabrg2 encodes a ligand-gated chloride channel involved in neuron inhibition. The mutation introduces a C1165T, converting a glutamine to a stop codon (Q390X) similar to a mutation found in a family with generalized epilepsy with febrile seizure plus (GEFS+), including some patients with Dravet syndrome, a severe type of epilepsy characterized by prolonged seizures that begin in the first year of life. Homozygous Gabrg2Q390X/Q390X mice are neonatal lethal, while heterozygous mice have increased mortality compared to wildtype. Heterozygous mice exhibit severe epilepsy phenotype including spontaneous generalized tonic clonic seizures. They also show increased susceptibility to thermal seizures, enhanced anxiety and deficits in social behaviors.

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The Jackson Laboratory is unable to ship this strain as live 
mice due to its severe phenotype. Please contact Customer Service for 
availability of frozen material. Gabrg2Q390X knock-in mice carry a glutamine to a stop codon (Q390X) nonsense mutation in the gamma-aminobutyric acid (GABA) A receptor, subunit gamma 2 (Gabrg2) gene, and are useful when studying the mechanisms of Dravet syndrome development and for development of new antiepileptic drugs and treatments.

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Our minimum guarantee for cryorecovery orders is 2 carriers. To ensure that your colony can be rapidly expanded upon arrival, additional carriers may be added to your order.