Transgenic mouse model for the fragile X syndrome

R F Kooy; R D'Hooge; E Reyniers; C E Bakker; G Nagels; K De Boulle; K Storm; G Clincke; P P De Deyn; B A Oostra; P J Willems

doi:10.1002/(SICI)1096-8628(19960809)64:2<241::AID-AJMG1>3.0.CO;2-X

Transgenic mouse model for the fragile X syndrome

Am J Med Genet. 1996 Aug 9;64(2):241-5. doi: 10.1002/(SICI)1096-8628(19960809)64:2<241::AID-AJMG1>3.0.CO;2-X.

Authors

R F Kooy¹, R D'Hooge, E Reyniers, C E Bakker, G Nagels, K De Boulle, K Storm, G Clincke, P P De Deyn, B A Oostra, P J Willems

Affiliation

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

PMID: 8844056
DOI: 10.1002/(SICI)1096-8628(19960809)64:2<241::AID-AJMG1>3.0.CO;2-X

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.

Publication types

Comparative Study
Research Support, Non-U.S. Gov't

MeSH terms

Aging / physiology
Animals
Fragile X Mental Retardation Protein
Fragile X Syndrome / genetics*
Fragile X Syndrome / physiopathology*
Fragile X Syndrome / psychology
Humans
Male
Maze Learning*
Mice
Mice, Knockout
Mice, Transgenic
Nerve Tissue Proteins / genetics*
Nerve Tissue Proteins / physiology
Organ Size
RNA-Binding Proteins*
Reference Values
Testis / growth & development

Substances

FMR1 protein, human
Fmr1 protein, mouse
Nerve Tissue Proteins
RNA-Binding Proteins
Fragile X Mental Retardation Protein