A STUDY OF CEREBELLAR MALFORMATIONS AND BRAIN WIRING IN EBF2 NULL MICE: A NEW MODEL OF MOTOR AND COGNITIVE DEFICITS

This project aims to elucidate the nature of some defects observed in a knock out mouse produced by our group under the aegis of Telethon. This mutant mouse features a movement defect that is reminiscent of some genetically determined neurologic diseases, namely the ataxias and dystonias. For the first time, our work has implicated a new gene, Ebf2, in the formation of the cerebellum. Furthermore, mice devoid of the Ebf2 gene feature severe defects in learning and memory, that have been demonstrated in laboratory tests. Our grant proposal contains two sections: on one hand we want to clarify the role of the Ebf2 gene in development of the cerebellum, an organ that controls voluntary movements and muscle tone. On the other hand, we want to develop new technologies suited to study memory and learning defects observed in these mice. The same technological tools will assist other researchers like us, who have developed new mouse models of neurologic and psychiatric diseases.