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The Oak Ridge Polycystic Kidney mouse: Modeling ciliopathies of mice and men
Author(s) -
Lehman Jonathan M.,
Michaud Edward J.,
Schoeb Trenton R.,
AydinSon Yesim,
Miller Michael,
Yoder Bradley K.
Publication year - 2008
Publication title -
developmental dynamics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.634
H-Index - 141
eISSN - 1097-0177
pISSN - 1058-8388
DOI - 10.1002/dvdy.21515
Subject(s) - biology , ciliopathies , polycystic kidney , gonadal ridge , polycystic kidney disease , oak ridge national laboratory , ridge , cilium , endocrinology , kidney , medicine , microbiology and biotechnology , physiology , genetics , paleontology , embryo , phenotype , physics , nuclear physics , embryogenesis , gene
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 ( Ift88 Tg737Rpw ). The Ift88 Tg737Rpw 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. Furthermore, 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. Developmental Dynamics 237:1960–1971, 2008. © 2008 Wiley‐Liss, Inc.