1996•American Journal of Medical GeneticsRequires access

Transgenic mouse model for the fragile X syndrome

R. Frank Kooy, Rudi D’Hooge, Edwin Reyniers, Cathy E. Bakker, Guy Nagels, Kristel De Boulle, Katrien Storm, Gilbert Clincke, Peter P. De Deyn, Ben A. Oostra, Patrick J. Willems

Open publisher page 184 citations

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.

About this research paper

What this paper is about

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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Available 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.

Key concepts: FMR1, Fragile X syndrome, Knockout mouse, Genetically modified mouse, Transgene, Fragile x, Phenotype, Animal model

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