Churchill James D, Beckel-Mitchener Andrea, Weiler Ivan Jeanne, Greenough William T
Beckman Institute, University of Illinois, Urbana, Illinois 61801, USA.
Microsc Res Tech. 2002 May 1;57(3):156-8. doi: 10.1002/jemt.10062.
The neurological deficits exhibited by patients with Fragile X syndrome (FraX) have been attributed to the absence of the Fragile X Mental Retardation Protein (FMRP), the product of the FMR1 gene, which is nonfunctional in these individuals. While a great deal has been learned about FraX using non-invasive techniques and autopsy tissue from humans, the limited availability of subjects and specimens severely restricts the rate at which such data can be collected and the types of experimental questions posed. In view of these limitations, a transgenic mouse model of FraX has been constructed in which the FMR1 gene is selectively knocked out (KO) [Bakker et al. (1994) Cell 78:23-33]. These mice show molecular, morphological, and behavioral alterations consistent with phenotypes observed in FraX patients, making them good models to study the absence of FMRP expression.
脆性X综合征（FraX）患者表现出的神经功能缺损归因于脆性X智力低下蛋白（FMRP）的缺失，FMRP是FMR1基因的产物，在这些个体中该基因无功能。虽然使用非侵入性技术和来自人类的尸检组织对FraX已经有了很多了解，但受试者和标本的有限可用性严重限制了收集此类数据的速度以及所提出的实验问题的类型。鉴于这些局限性，已经构建了一种FraX转基因小鼠模型，其中FMR1基因被选择性敲除（KO）[Bakker等人（1994年），《细胞》78:23 - 33]。这些小鼠表现出与FraX患者中观察到的表型一致的分子、形态和行为改变，使其成为研究FMRP表达缺失的良好模型。
