Twenty years of discoveries emerging from mouse models of autism.

Scientists have spent 20 years creating mice with genetic changes similar to those found in autistic people. These mice help researchers understand how different genes affect autism-like behaviors, including social difficulties and repetitive actions. The mice are now being used to test new treatments for autism.

This review examines two decades of research using mouse models to study autism spectrum disorder. Scientists have created laboratory mice with genetic mutations similar to those found in people with autism (over 100 different mutations identified). These mouse models allow researchers to study how specific genetic changes affect behaviors relevant to autism, including social interactions and repetitive behaviors. The review describes the evolution of behavioral testing methods that mirror autism diagnostic criteria.

These mouse models also incorporate brain activity, anatomy, and biochemical measurements. Currently, these validated models are being used to test potential treatments, representing a promising direction for autism research.

Mouse models provide validated platforms for testing autism interventions before human trials. The identified genetic targets may inform personalized treatment approaches and genetic counseling for families.

This is a review paper without original data. The abstract doesn't specify which specific mutations or interventions were most promising, or detail the success rates of translational findings from mouse models to human treatments.

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.