Department of Psychology, University of Hawaii at Manoa, 1993 East-West Road, Honolulu, HI 96822, USA.
Behav Genet. 2012 Mar;42(2):299-312. doi: 10.1007/s10519-011-9501-2. Epub 2011 Sep 11.
Mouse models of Rett syndrome, with targeted mutations in the Mecp2 gene, show a high degree of phenotypic consistency with the clinical syndrome. In addition to severe and age-specific regression in motor and cognitive abilities, a variety of studies have demonstrated that Mecp2 mutant mice display impaired social behavior. Conversely, other studies indicate complex enhancements of social behavior in Mecp2 mutant mice. Since social behavior is a complicated accumulation of constructs, we performed a series of classic and refined social behavior tasks and revealed a relatively consistent pattern of enhanced pro-social behavior in hypomorphic Mecp2 (308/Y) mutant mice. Analyses of repetitive motor acts, and cognitive stereotypy did not reveal any profound differences due to genotype. Taken together, these results suggest that the mutations associated with Rett syndrome are not necessarily associated with autism-relevant social impairment in mice. However, this gene may be a valuable candidate for revealing basic mechanisms of affiliative behavior.
患有雷特综合征的小鼠模型，其 Mecp2 基因存在靶向突变，表现出与临床综合征高度一致的表型。除了运动和认知能力的严重且具有年龄特异性的倒退外，多项研究表明 Mecp2 突变小鼠表现出社交行为受损。相反，其他研究表明 Mecp2 突变小鼠的社交行为出现复杂增强。由于社交行为是一种复杂的结构的累积，我们进行了一系列经典和精细的社交行为任务，揭示了低功能 Mecp2（308/Y）突变小鼠中增强的亲社会行为的相对一致模式。由于基因型，对重复运动行为和认知刻板性的分析并未显示出任何明显差异。总之，这些结果表明，与雷特综合征相关的突变不一定与小鼠的自闭症相关社交障碍相关。然而，该基因可能是揭示亲和行为基本机制的有价值的候选基因。
