Abstract
Tuberous sclerosis complex (TSC) is a genetic disorder characterized by the development of hamartomas in multiple organs. Neurological manifestation includes cortical dysplasia, epilepsy, and cognitive deficits such as mental impairment and autism. We measured the impact of TSC2-GAP mutations on cognitive processes and behavior in, ΔRG transgenic mice that express a dominant/negative TSC2 that binds to TSC1, but has mutations affecting its GAP domain and its rabaptin-5 binding motif, resulting in inactivation of the TSC1/2 complex. We performed a behavioral characterization of the ΔRG transgenic mice and found that they display mild, but significant impairments in social behavior and rotarod motor learning. These findings suggest that the ΔRG transgenic mice recapitulate some behavioral abnormalities observed in human TSC patients.
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