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.
Highlights
Autism spectrum disorders (ASD) are a heterogeneous group of brain diseases with a well recognized genetic and neurodevelopmental origin
This study indicates that loss of Mecp2 in inhibitory neurons might be a crucial determinant of severe forms of ASD
Strong ASD candidate genes are defined as those genes for which a rigorous statistical comparison between cases and controls has been performed in a series of independent studies, yielding genome-wide statistical significance of ASD association
Summary
Autism spectrum disorders (ASD) are a heterogeneous group of brain diseases with a well recognized genetic and neurodevelopmental origin. Due to the complexity of these pathologies, the importance of animal models in ASD research has been widely recognized in recent years. Several genetic mouse models of ASD have been developed, whose complete phenotypic characterization is still under investigation in several laboratories [21, 116,130]. We will describe only the most relevant mouse models that were generated by targeted inactivation of ASD-associated genes. Posed in the SFARIgene database of the Simon Foundation Autism Research Initiative (https://gene.sfari.org): syndromic ASD genes, strong candidate genes and genes with suggestive or minimal evidence of ASD association. For a comprehensive list of the available mouse models for ASD, the reader is referred to the SFARIgene database (https:// gene.sfari.org)
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