Behavioural phenotypes and neural circuit dysfunctions in mouse models of autism spectrum disorder

Allain-Thibeault Ferhat, Sonja Halbedl, Michael J. Schmeisser, Martien J. Kas, Thomas Bourgeron, Elodie Ey*

*Bijbehorende auteur voor dit werk

OnderzoeksoutputAcademicpeer review

9 Citaten (Scopus)


Autism spectrum disorder (ASD) is a neurodevelopmental condition primarily characterised by alterations in social interaction and communication combined with the presence of restricted interests and stereotyped behaviours. Mutations in several genes have been associated with ASD resulting in the generation of corresponding mouse models. Here, we focus on the behavioural (social and stereotyped behaviours), functional and structural traits of mice with mutations in genes encoding defined synaptic proteins including adhesion proteins, scaffolding proteins and subunits of channels and receptors. A meta-analysis on ASD mouse models shows that they can be divided into two subgroups. Cluster I gathered models highly impaired in social interest, stereotyped behaviours, synaptic physiology and protein composition, while Cluster II regrouped much less impaired models, with typical social interactions. This distribution was not related to gene families. Even within the large panel of mouse models carrying mutations in Shank3, the number of mutated isoforms was not related to the severity of the phenotype. Our study points that the majority of structural or functional analyses were performed in the hippocampus. However, to robustly link the structural and functional impairments with the behavioural deficits observed, brain structures forming relevant nodes in networks involved in social and stereotyped behaviours should be targeted in the future. In addition, the characterisation of core ASD-like behaviours needs to be more detailed using new approaches quantifying the variations in social motivation, recognition and stereotyped behaviours.
Originele taal-2English
TitelTranslational Anatomy and Cell Biology of Autism Spectrum Disorder
RedacteurenMichael J. Schmeisser, Tobias M. Boeckers
UitgeverijSpringer International Publishing
Aantal pagina's17
ISBN van elektronische versie978-3-319-52498-6
ISBN van geprinte versie978-3-319-52496-2
StatusPublished - 2017

Publicatie series

NaamAdvances in Anatomy Embryology and Cell Biology
ISSN van geprinte versie0301-5556

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