Connecting Genotype with Behavioral Phenotype in Mouse Models of Autism Associated with Mutations.

Cold Spring Harb Perspect Med

Department of Neuroscience, The Scripps Research Institute, Jupiter, Florida 33458, USA.

Published: September 2020

A subset of individuals with autism spectrum disorder (ASD) and macrocephaly carry mutations in the gene Animal models, particularly mice, have been helpful in establishing a causal role for mutations in autism-relevant behavioral deficits. These models are a useful tool for investigating neurobiological mechanisms of these behavioral phenotypes and developing potential therapeutic interventions. Here we provide an overview of various genetic mouse models that have been used to characterize behavioral phenotypes caused by perturbation of We discuss convergent and divergent phenotypes across models with the aim of highlighting a set of behavioral domains that are sensitive to the effects of mutation and that may provide useful readouts for translational and basic neuroscience research.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7461765PMC
http://dx.doi.org/10.1101/cshperspect.a037010DOI Listing

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