These Gabrb3+/D120N knock-in mice carry a mutation in exon 4 of the gamma-aminobutyric acid (GABA) A receptor, subunit beta 3 (Gabrb3) gene. This mutation introduces a GAC to AAC mutation (G358A), converting an aspartic acid to an asparagine (D120N) similar to a mutation found in humans with Lennox-Gastaut Syndrome (LGS), a severe early onset epileptic encephalopathy that becomes apparent during infancy and childhood. LGS patients experience several types of seizures including atypical absence, atonic, and tonic seizures, and less common types including clonic, myoclonic, and generalized tonic-clonic (GTC) seizures. They also exhibit behavioral abnormalities including varying degrees of developmental delay, intellectual impairment, and other behavioral problems such as hyperactivity and autism spectrum disorder (ASD). Homozygous Gabrb3D120N/D120N mice are neonatal lethal after E19.5. Heterozygous mice weigh less than wild-type pups at P21, yet achieve normal body weight by adulthood. They exhibit atypical absence seizures, myoclonic seizures, generalized tonic-clonic seizures, tonic seizures, and atonic seizures. Gabrb3+/D120N mice also have LGS-associated behavioral abnormalities including an autism-like phenotype including impaired learning and memory, and impaired social interactions, anxiety, and hyperactivity. Treatment with antiepileptic drugs and cannabinoids ameliorates atypical absence seizures in knock-in mice. The donating investigator reports that male heterozygotes do not make good breeders after 12 weeks of age, and female heterozygotes make poor dams. They suggest pairing wild-type foster dams with each litter. Small pups may require extended weaning and surviving pups have a normal lifespan.

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Gabrb3+/D120N knock-in mice carry an aspartic acid to asparagine mutation (D120N) in the gamma-aminobutyric acid (GABA) A receptor, subunit beta 3 (Gabrb3) gene, and are useful when studying the mechanisms of Lennox-Gastaut syndrome (LGS) development and for development of new antiepileptic drugs and treatments.

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