Develop transgenic mice with different mutation in the FMR1 gene.
Study the biochemical abnormalities of these transgenic mice.
Morphological, cellular and molecular studies of the brain in the mice.
Studies of behaviour and cognitive function in these transgenic animals.
To study the mechanisms that lead to mental retardation and behavioral abnormalities in the fragile X syndrome, we take advantage by the participants' expertise in molecular biology, neurobiology and knowledge of animal behavior. Fragile X mental retardation is caused by the absence of the FMR1 protein or by in missense mutation in the FMR1 protein. For this purpose we will engineer mice that have abnormalities in the FMR1 gene that will mimic the effect at the protein level as is seen in patient suffering from fragile X mental retardation. Animals will be prepared that produce no protein or a mutated FMR1 protein. By reintroduction of the gene in these animals we will bring the gene to expression into a limited number of tissues and/or cell types. These animals will be used to study clinical and biochemical abnormalities. These mice will be studied morphologically, electrophysiologically and molecularly.
As fragile X patients show deficits in a number of behavior and cognitive functions, these mice will be subjected to a number of behavior or cognitive tests to determine which functions are affected and to try to understand which parts of the brain are important for the development of mental retardation.
The studies on the transgenic mice might contribute to our understanding of behavior, learning and memory.
Funding SchemeCSC - Cost-sharing contracts
2610 Wilrijk (Antwerpen)