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Post published on Twitter/X on 22 Jan 2023 08:01

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

Publication date
March 2023
Identifier
10.1016/j.neubiorev.2023.105053
Authors
Jacqueline N. Crawley
Source
Neuroscience & Biobehavioral Reviews
Details
146, 105053
Reference type
article
Publisher
Elsevier BV
Metadata source
crossref

Abstract

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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