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Shank1 and Prosap1/Shank2 Mouse Models of Autism

Michael J. Schmeisser and Tobias M. Boeckers

Over the last decade, mutations of genes coding for synaptic proteins including postsynaptic ProSAP/Shank scaffolds, were found to play a central role in autism pathogenesis. Strikingly, alterations within the human genes of all three ProSAP/Shank family members called SHANK1, PROSAP1/SHANK2 and PROSAP2/SHANK3 have been detected in patients with Autism Spectrum Disorders (ASDs). Due to the fact, that the patho-mechanisms caused by those genetic alterations are still far from being understood and that the development of therapeutic options crucially relies on the latter understanding, the generation and thorough analysis of animal models is an essential step. Here, we review existing mouse models of Shank1 and ProSAP1/Shank2 disruption with respect to neurobiological, neurophysiological and neurobehavioral phenotypes and give some future directions towards the conception of therapeutic strategies.