| 210274 | Q80Z38 | SHAN2_MOUSE | SH3 and multiple ankyrin repeat domains protein 2 (Shank2) (Cortactin-binding protein 1) (CortBP1) | DISRUPTION PHENOTYPE | Mutants are viable, but with reduced body weight and a lower survival rate compared to their wild-type littermates. They are extremely hiperactive and display profound autistic-like behavioral alterations including repetitive grooming as well as abnormalities in vocal and social behaviors. Mutants exhibit fewer dendritic spines and show reduced basal synaptic transmission, a reduced frequency of miniature excitatory postsynaptic currents and enhanced NMDA receptor-mediated excitatory currents at the physiological level. They also show a brain-region-specific up-regulation of ionotropic glutamate receptors and increased levels of SHANK3. {ECO:0000269|PubMed:22699619}. |