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Fragile X

Autism spectrum disorder is a growing concern, affecting 0.7–1% of all children born in the United States (CDC fact sheet). Fragile X syndrome (FXS) is the most common inherited form of autism and intellectual disability. This syndrome is caused by the silencing of a single gene, fragile x mental retardation 1 (Fmr1). Clinical evidence demonstrates clear abnormalities in sensory processing and communication in humans with FXS (Van der Molen et al., 2012; Schneider et al., 2013). Consistent with the clinical characteristics, the Fmr1 KO mouse model exhibits a variety of abnormal responses to auditory stimuli, and therefore provides a means of studying the mechanisms and potential drug therapies for FXS (Baker et al., 1994).

One well-known and commonly used phenotype in pre-clinical studies of FXS with Fmr1 KO mice is audiogenic seizures. Abnormal auditory evoked responses have been used as outcome measures to test therapeutics in both FXS patients and also Fmr1 KO mice. PGI breeds the mice and routinely screens novel therapies for attenuation of audiogenic seizures in 21day old Fmr1 mice.

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