| First Author | Chévere-Torres I | Year | 2012 |
| Journal | Neurobiol Dis | Volume | 45 |
| Issue | 1 | Pages | 156-64 |
| PubMed ID | 21827857 | Mgi Jnum | J:179850 |
| Mgi Id | MGI:5304246 | Doi | 10.1016/j.nbd.2011.07.018 |
| Citation | Chevere-Torres I, et al. (2012) Impaired social interactions and motor learning skills in tuberous sclerosis complex model mice expressing a dominant/negative form of tuberin. Neurobiol Dis 45(1):156-64 |
| abstractText | 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, DeltaRG 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 DeltaRG transgenic mice and found that they display mild, but significant impairments in social behavior and rotarod motor learning. These findings suggest that the DeltaRG transgenic mice recapitulate some behavioral abnormalities observed in human TSC patients. |
