Animal models of fragile X syndrome
To study the molecular mechanisms of the fragile X syndrome (FXS), including CGG repeat instability and expansion, the physiological function of FMR1 protein (FMRP) and the pathogenesis of the FXS, animal model systems are crucial. The development of several well validated animal models, including vertebrate and nonvertebrate models, for FXS has significantly contributed to knowledge of the molecular mechanisms and pathways involved in FXS. In addition, these animal models were indispensable in the development of targeted therapies for FXS. This chapter will provide an overview of the different animal models, including mouse, rat, zebra fish and fly models that were generated after the discovery of the FMR1 gene.
|Animal model, FMR1 gene function, Modelling human disease, Preclinical research, Transgenesis|
|Organisation||Erasmus MC: University Medical Center Rotterdam|
Kooy, R.F, Jin, P. (Peng), Bao, H. (Han), Till, S. (Sally), Kind, P. (Peter), & Willemsen, R. (2017). Animal models of fragile X syndrome. In Fragile X Syndrome: From Genetics to Targeted Treatment (pp. 123–147). doi:10.1016/B978-0-12-804461-2.00007-X