A XXXX model of the @entity2100 premutation: effects on behavior, dendrite morphology, and regional rates of cerebral protein synthesis.

@entity11157 @entity34141 @entity73 @entity71 @entity19 @entity51 @entity2100 @entity400 @entity72 @entity148 @entity2343 @entity2055
Carriers of @entity34141 premutation alleles have 55-200 CGG repeats in the 5' untranslated region of the gene. These individuals are at risk for @entity2100 associated primary @entity11157 (females) and, in late life, @entity2100 associated @entity400 and @entity2055 (males, and to a lesser extent, females). Premutation carrier status can also be associated with @entity72 , attention @entity71 , and some @entity73 . In premutation carriers, @entity34141 mRNA levels are often higher than those with normal sized alleles. In contrast, in subjects with full mutation alleles, (>200 repeats) the @entity34141 gene is silenced and @entity34141 mRNA and its product, @entity34141 , are absent. We have studied a male knock-in (KI) @entity19 model of the @entity2100 premutation (120-140 repeats) during young adulthood. In comparison to wild type, KI @entity19 were hyperactive, exhibited less @entity148 in both the open field and the elevated zero maze, were impaired on the passive avoidance test, and showed some @entity51 on a test of social interaction. Motor learning as assessed by the rotarod test was normal. @entity2343 were less complex and spine densities and lengths increased in medial prefrontal cortex, basal lateral amygdala, and hippocampus compared with wild type. Regional rates of cerebral protein synthesis measured in vivo in KI @entity19 were increased. KI @entity19 also had elevated levels of @entity34141 mRNA and decreased levels of @entity34141 . Our results highlight similarities in phenotype between KI and @entity34141 knockout @entity19 and suggest that the decreased concentration of @entity34141 contributes to the phenotype in young adult KI @entity19 .
