Characterizing Behavioral Phenotypes of Fragile X Syndrome In Mice

Fragile X Syndrome (FXS) is the most prevalent inherited form of autism. This condition is due to inappropriate silencing of the Fmr1 gene on the X-chromosome and subsequent loss of Fragile X Mental Retardation Protein (FMRP), a RNA-binding protein that represses dendritic protein translation. Clinical features of FXS include cognitive impairments, increased seizure susceptibility, and altered social behaviors. In these studies, I used the marble burying, open-field, acoustic startle/prepulse inhibition, social exploration and nose poke behavioral assays to characterize phenotypic differences between male Fmr1-KO and wildtype mice that are comparable to known FXS behavioral defects. Results indicate that Fmr1-KO mice display increased perseverance and general hyperactivity, but are otherwise behaviorally similar to the control subjects. These findings provide a basis for future pre-clinical mouse studies that will attempt to correct behavioral and cellular abnormalities associated with FXS using pharmacological interventions during different stages of development.Bachelor of Scienc