Knock-in mouse, useful in screening agents for treatment of epilepsy, contains a missense mutation in the beta2-subunit of the neuronal acetylcholine receptor

摘要

Knock-in mouse (A) that has a missense mutation in the beta2 subunit (I) of the neuronal nicotinic acetylcholine receptor (R) Independent claims are also included for the following: (1) targeting vector (TV) that contains, functionally linked, the genomic and/or cDNA sequence for a subunit of the murine (R), including a missense mutation in (I), or part of the subunit that includes at least one mutation, a selectable marker gene (SMG) and optionally two recognition sites for a recombinase, flanking SMG; (2) murine embryonal stem cells transfected with TV; (3) screening method for identifying compounds (X) useful in treatment of human epilepsy, especially autosomal dominant nocturnal frontal lobe epilepsy, by using (A); and (4) (X) identified by method (2).