Anonymous:
Fmr1 knockout mice: a model to study fragile X mental retardation.
The Dutch-Belgian Fragile X Consortium.
Cell 1994 Jul 15;78(1):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.
