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Publication avec DOI Récupéré Publication crossref

Jacqueline N. Crawley (2023). Twenty years of discoveries emerging from mouse models of autism. Neuroscience & Biobehavioral Reviews, 146, 105053. Elsevier BV.

Date de publication
mars 2023
Identifiant
10.1016/j.neubiorev.2023.105053
Auteurs
Jacqueline N. Crawley
Source
Neuroscience & Biobehavioral Reviews
Détails
146, 105053
Type de référence
article
Éditeur
Elsevier BV
Source de métadonnées
crossref

Résumé

More than 100 single gene mutations and copy number variants convey risk for autism spectrum disorder. To understand the extent to which each mutation contributes to the trajectory of individual symptoms of autism, molecular genetics laboratories have introduced analogous mutations into the genomes of laboratory mice and other species. Over the past twenty years, behavioral neuroscientists discovered the consequences of mutations in many risk genes for autism in animal models, using assays with face validity to the diagnostic and associated behavioral symptoms of people with autism. Identified behavioral phenotypes complement electrophysiological, neuroanatomical, and biochemical outcome measures in mutant mouse models of autism. This review describes the history of phenotyping assays in genetic mouse models, to evaluate social and repetitive behaviors relevant to the primary diagnostic criteria for autism. Robust phenotypes are currently employed in translational investigations to discover effective therapeutic interventions, representing the future direction of an intensely challenging research field.

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