The Oak Ridge Polycystic Kidney mouse: Modeling ciliopathies of mice and men

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 mutat...

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Bibliographic Details
Published in:Developmental dynamics 2008-08, Vol.237 (8), p.1960-1971
Main Authors: Lehman, Jonathan M., Michaud, Edward J., Schoeb, Trenton R., Aydin‐Son, Yesim, Miller, Michael, Yoder, Bradley K.
Format: Article
Language:English
Subjects:
Animals
Cilia
Cilia - pathology
ciliopathies
Disease Models, Animal
Epithelial Cells - pathology
Epithelial Cells - ultrastructure
hair follicle
Humans
IFT88
Mice
Mice, Transgenic
Polycystic Kidney Diseases - genetics
Polycystic Kidney Diseases - pathology
Polycystic Kidney Diseases - physiopathology
skin
Tumor Suppressor Proteins - genetics
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Summary: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. 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.
ISSN:1058-8388
1097-0177
DOI:10.1002/dvdy.21515