Modeling fragile X syndrome in the Fmr1 knockout mouse.

@article{Kazdoba2014ModelingFX,
  title={Modeling fragile X syndrome in the Fmr1 knockout mouse.},
  author={Tatiana M Kazdoba and Prescott T. Leach and Jill L Silverman and Jacqueline N. Crawley},
  journal={Intractable & rare diseases research},
  year={2014},
  volume={3 4},
  pages={118-33}
}
Fragile X Syndrome (FXS) is a commonly inherited form of intellectual disability and one of the leading genetic causes for autism spectrum disorder. Clinical symptoms of FXS can include impaired cognition, anxiety, hyperactivity, social phobia, and repetitive behaviors. FXS is caused by a CGG repeat mutation which expands a region on the X chromosome containing the FMR1 gene. In FXS, a full mutation (> 200 repeats) leads to hypermethylation of FMR1, an epigenetic mechanism that effectively… CONTINUE READING
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