Comprehensive neurocognitive endophenotyping strategies for mouse models of genetic disorders

Michael R. Hunsaker

Research output: Contribution to journalArticlepeer-review

22 Scopus citations


There is a need for refinement of the current behavioral phenotyping methods for mouse models of genetic disorders. The current approach is to perform a behavioral screen using standardized tasks to define a broad phenotype of the model. This phenotype is then compared to what is known concerning the disorder being modeled. The weakness inherent in this approach is twofold: First, the tasks that make up these standard behavioral screens do not model specific behaviors associated with a given genetic mutation but rather phenotypes affected in various genetic disorders; secondly, these behavioral tasks are insufficiently sensitive to identify subtle phenotypes. An alternate phenotyping strategy is to determine the core behavioral phenotypes of the genetic disorder being studied and develop behavioral tasks to evaluate specific hypotheses concerning the behavioral consequences of the genetic mutation. This approach emphasizes direct comparisons between the mouse and human that facilitate the development of neurobehavioral biomarkers or quantitative outcome measures for studies of genetic disorders across species.

Original languageEnglish (US)
Pages (from-to)220-241
Number of pages22
JournalProgress in Neurobiology
Issue number2
StatePublished - Feb 2012


  • 22q11.2 Deletion syndrome
  • Behavioral endophenotype
  • Fragile X premutation
  • Fragile X syndrome
  • Transgenic mouse

ASJC Scopus subject areas

  • Neuroscience(all)


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