FMR1 Knockout mice: A model to study fragile X mental retardation

摘要: The fragile X syndrome is the most frequent form of inherited mental retardation in humans with an incidence 1 1250 males and 2500 females. clinical includes moderate to severe retardation, autistic behavior, macroorchidism, facial features, such as long face mandibular prognathism large, everted ears. molecular basis for this disease a large expansion triplet repeat (CGG){sub n} 5{prime} untranslated region FMR1 gene. Due CGG repeat, promoter becomes methylated gene subsequently silenced. Hardly anything known about physiologic function pathologic mechanisms leading these symptoms. Since highly conserved mouse, we used mouse design knockout model syndrome. These mice lacking Fmrp have normal litter size suggesting that not essential human gametogenesis embryonic development. show abnormalities also seen affected organs patients. Mutant gradual development through time macroorchidism. In observed cognitive defects ofmore » deficits learning (as shown by hidden platform Morris water maze task) behavioral increased exploratory behavior hyperactivity. Therefore may serve valuable tool studying role elucidate involved abnormal retardation.« less