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Abstract #1031

Default-mode network hypo-connectivity in a mouse model of human chromosome 16p11.2 microdeletion

Alice Bertero1,2, Gergely David2, Adam Liska2, Alberto Galbusera2, Massimo Pasqualetti1,2, and Alessandro Gozzi2

1Department of Biology, Unit of Cell and Developmental Biology, University of Pisa, Pisa, Italy, 2Functional Neuroimaging Lab, Center for Neuroscience and Cognitive Systems, Istituto Italiano di Tecnologia, Rovereto, Italy

Autism spectrum disorder (ASD) has been associated to reduced or aberrant functional brain connectivity as measured with resting state fMRI (rsfMRI). However little is known on the pathophysiological and genetic determinants underlying these alterations. Here we show that mice recapitulating human chromosome 16p11.2 microdeletion, a trait associated with intellectual disability and high ASD penetrance, exhibit reduced connectivity in prefrontal hubs of the mouse default mode network, recapitulating a hallmark neuroimaging finding in ASD. These findings establish a causal link between ASD-associated mutations and connectivity alterations and identify a plausible macroscale substrate for the cognitive impairments associated to 16p11.2 microdeletion.

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