Dr. Richard Olsen
GABA beta3 Deficient Mice
The gene that is defective in AS is UBE3A and in 70% of individuals who have AS this gene and genes nearby it are deleted from chromosome 15. This project sought to determine if one of the adjacent genes to UBE3A was important in causing abnormalities when it was also deleted in combination with UBE3A. The experimental approach used mice that were only missing the adjacent gene, GABRB3, but had UBE3A in place and not deleted. The results of this study as well as future studies on this question showed that UBE3A is the major gene that when disrupted causes the seizures in AS.