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Behavioral Endophenotype In Mouse Models of Fragile X-Associated Disorders: An Analysis of the State of the Field
  • Michael Hunsaker
Michael Hunsaker

Corresponding Author:[email protected]

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Abstract

It has become increasingly important for the field of behavioral genetics to identify not only gross behavioral phenotypes associated with a given mutation, but also to identify behavioral endophenotypes that scale with the dosage of the genetic mutation being studied. Over the past few years, studies evaluating the effects of the polymorphic CGG trinucleotide repeat on the FMR1 gene underlying the Fragile X-Associated Disorders have reported preliminary evidence for a behavioral endophenotype in the CGG KI mouse model. More recently, the experiments used to test the CGG KI mouse model have been extended to the Fmr1 KO mouse model. When combined, these data provide compelling evidence for a clear neurobehavioral endophenotype in the mouse models of Fragile X-Associated Disorders such that behavioral deficits scale predictably with genetic dosage. This endophenotype may likely inform future research into treatment strategies for not only a Fragile X Syndrome, but also the Fragile X Premutation and FXTAS.