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Am J Med Genet. 1996 Aug 9;64(2):241-5.

Transgenic mouse model for the fragile X syndrome.

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  • 1Department of Medical Genetics, University of Antwerp, Belgium.


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.

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