Title: Fmr1 Knockout Mice: a model to study fragile X mental retardation
Authors: Bakker, C.E. ×
Verheij, C.
Willemsen, R.
Van der Helm, R.
Oerlemans, F.
Vermey, M.
Bygrave, A.
Hoogeveen, A.T.
Oostra, B.A.
Reyniers, E.
De Boulle, K.
D'Hooge, Rudi
Cras, P.
van Velzen, D.
Nagels, G.
Martin, J.J.
De Deyn, P.P.
Darby, J.K.
Willems, P.J. #
Issue Date: 1994
Publisher: MIT Press
Series Title: Cell vol:78 issue:1 pages:23-33
Abstract: Male patients with fragile X syndrome lack FMR1 protein due to silencing of the FMR1 gene by amplification of a CGG repeat and subsequent methylation of the promoter region. The absence of FMR1 protein leads to mental retardation, aberrant behavior, and macroorchidism. Hardly anything is known about the physiological function of FMR1 and the pathological mechanisms leading to these symptoms. Therefore, we designed a knockout model for the fragile X syndrome in mice. The knockout mice lack normal Fmr1 protein and show macroorchidism, learning deficits, and hyperactivity. Consequently, this knockout mouse may serve as a valuable tool in the elucidation of the physiological role of FMR1 and the mechanisms involved in macroorchidism, abnormal behavior, and mental retardation
ISSN: 0092-8674
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Laboratory for Biological Psychology
× corresponding author
# (joint) last author

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