The Oak Ridge Polycystic Kidney mouse: modeling ciliopathies of mice and men.
The Oak Ridge Polycystic Kidney mouse: modeling ciliopathies of mice and men.
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DOI：
10.1002/dvdy.21515
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发表时间：
2008-08
影响因子：
2.5
通讯作者：
Yoder, Bradley K.
中科院分区：
文献类型：
--
作者：
Lehman, Jonathan M.;Michaud, Edward J.;Schoeb, Trenton R.;Aydin-Son, Yesim;Miller, Michael;Yoder, Bradley K.
橡树岭多囊肾（ORPK）小鼠在近14年前被描述为人类隐性多囊肾病的模型。ORPK小鼠通过将转基因整合到ift 88基因的内含子中产生亚型等位基因（Ift 88 Tg 737 Rpw）。Ift 88 Tg 737 Rpw突变损害鞭毛内转运（IFT），这是能动和不动纤毛组装所需的过程。历史上，原不动纤毛被认为对人类健康的重要性最小;然而，现在迅速增加的人类疾病的数量被归因于纤毛缺陷。重要的是，这些表型中的许多都存在，并且可以使用ORPK小鼠进行分析。在这篇综述中，我们重点介绍了使用Oscillus小鼠进行的研究和与人类纤毛疾病共享的表型。此外，我们描述了一个额外的毛囊发育不良表型在ORPK小鼠，这旁边的外胚层发育不良，在人类Ellis-van Creveld和Sensenbrenner综合征，表明初级纤毛在皮肤和毛囊中的作用未得到重视。
The Oak Ridge Polycystic Kidney (ORPK) mouse was described nearly 14 years ago as a model for human recessive Polycystic Kidney Disease. The ORPK mouse arose through integration of a transgene into an intron of the ift88 gene resulting in a hypomorphic allele (Ift88Tg737Rpw). The Ift88Tg737Rpw mutation impairs intraflagellar transport (IFT), a process required for assembly of motile and immotile cilia. Historically, the primary immotile cilium was thought to have minimal importance for human health; however, a rapidly expanding number of human disorders have now been attributed to ciliary defects. Importantly, many of these phenotypes are present and can be analyzed using the ORPK mouse. In this review, we highlight the research conducted using the OPRK mouse and the phenotypes shared with human cilia disorders. Further, we describe an additional follicular dysplasia phenotype in the ORPK mouse, which alongside the ectodermal dysplasias seen in human Ellis-van Creveld and Sensenbrenner’s syndromes, suggests an unappreciated role for primary cilia in the skin and hair follicle.
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影响因子：
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作者：
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通讯作者：
Yoder, BK
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