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Transgenic mouse model for the fragile X syndrome

American Journal of Medical GeneticsPublished 9 August 1996
R. Frank Kooy, Rudi D’Hooge, Edwin Reyniers, Cathy E. Bakker, Guy Nagels, Kristel De Boulle
Citations180

TL;DR

It is concluded that the Fmr1 knockout mouse is a reliable transgenic model to study the fragile X syndrome.

Abstract

Transgenic fragile X knockout mice have been constructed to provide an animal model to study the physiologic function of the fragile X gene (FMR1) and to gain more insight into the clinical phenotype caused by the absence of the fragile X protein. Initial experiments suggested that the knockout mice show macroorchidism and cognitive and behavioral deficits, abnormalities comparable to those of human fragile X patients. In the present study, we have extended our experiments, and conclude that the Fmr1 knockout mouse is a reliable transgenic model to study the fragile X syndrome.

Keywords

NeuroscienceBiochemistry, Genetics and Molecular Biology