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Mutant mouse models of autism spectrum disorders

Issue title: Autism: From Genetics to Biomarkers

Article type: Research Article

Authors: Provenzano, Giovanni | Zunino, Giulia | Genovesi, Sacha | Sgadó, Paola | Bozzi, Yuri;

Affiliations: Laboratory of Molecular Neuropathology, Centre for Integrative Biology, University of Trento, Trento, Italy | Neuroscience Institute, National Research Council, Pisa, Italy

Note: [] Corresponding author: Yuri Bozzi, Laboratory of Molecular Neuropathology, Centre for Integrative Biology (CIBIO), University of Trento, Trento, Italy. Tel.: +39 0461 283651; Fax: +39 0461 283937; E-mail: bozzi@science.unitn.it

Keywords: Autism, brain development, knockout mouse, animal model

DOI: 10.3233/DMA-2012-0917

Journal: Disease Markers, vol. 33, no. 5, pp. 225-239, 2012

Received 16 August 2012
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Accepted 16 August 2012
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Published: 2012
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Abstract

Autism spectrum disorders (ASDs) are a heterogeneous group of neurodevelopmental diseases characterized by a triad of specific behavioral traits: abnormal social interactions, communication deficits and stereotyped or repetitive behaviors. Several recent studies showed that ASDs have a strong genetic basis, contributing to the discovery of a number of ASD-associated genes. Due to the genetic complexity of these disorders, mouse strains with targeted deletion of ASD genes have become an essential tool to investigate the molecular and neurodevelopmental mechanisms underlying ASD. Here we will review the most relevant genetic mouse models developed by targeted inactivation of ASD-associated genes, and discuss their importance for the development of novel pharmacological therapies of these disorders.

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