Genetic Animal Models for Autism Spectrum Disorder

Curr Top Behav Neurosci. 2017:30:311-324. doi: 10.1007/7854_2015_407.


Autism spectrum disorder (ASD) affects approximately 1 % of the human population and has a strong genetic component. Hence, the recent discovery of major "ASD genes" has subsequently resulted in the generation of several genetic animal models of ASD. Careful analysis of behavioral phenotypes and characterization of the underlying neurobiological mechanisms in these models should further help us to identify novel therapeutic targets and develop more effective strategies in the future to ameliorate or even reverse core symptoms and comorbidities of ASD. In this review, we will focus on the mutant mouse as animal model and outline how to characterize both behavioral and neurobiological phenotypes in this organism. We will further discuss a selection of major ASD mutant mouse lines. Our conclusions will finally address the current goals and perspectives in the field to obtain a more comprehensive and possibly also converging picture of ASD pathogenesis, which could be most useful for the desired bench-to-bedside strategy of translational medicine for this complex disorder.

Keywords: Autism spectrum disorder; Fragile X; Neuroligin3; Rett syndrome; Shank3; Tuberous sclerosis.

Publication types

  • Review

MeSH terms

  • Animals
  • Autism Spectrum Disorder / genetics*
  • Disease Models, Animal*
  • Humans
  • Mice
  • Mice, Mutant Strains