In regard of neurodevelopmental disorders, where the brain is often the focus of the research studies, the use of animal models is essential and complementary to studies in humans. Animal models represent a key tool in understanding the pathobiology of neurodevelopmental disorders and in developing optimal pharmacological treatments for these disorders. In the context of neurodevelopmental disorders, face validity refers to the ability of a model to successfully capture aspects of the observed phenotype. For any etiological cause of neurodevelopmental disorders, one must consider the two related parameters of penetrance and variable expressivity. The four-tiered approach discussed in this chapter provides opportunities to identify expected and unexpected phenotypes, including intermediate/intervening phenotypes that can be useful for understanding pathophysiology, and for considering neurobiologically driven novel therapeutics. One question that needs to be considered carefully when targeting a gene or a locus in an animal model surrounds the spectrum of human mutations.

Original languageEnglish
Title of host publicationThe Genetics of Neurodevelopmental Disorders
Number of pages14
ISBN (Electronic)9781118524947
ISBN (Print)9781118524886
StatePublished - 24 Jun 2015


  • Animal model
  • Face validity
  • Four-tiered analysis
  • Human mutation
  • Neurodevelopmental disorder
  • Neurological phenotype
  • Pathophysiology
  • Penetrance
  • Variable expressivity


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