The Oak Ridge Polycystic Kidney mouse: Modeling ciliopathies of mice and men
| Autor: | Edward J. Michaud, Trenton R. Schoeb, Bradley K. Yoder, Jonathan M. Lehman, Yesim Aydin-Son, Michael K Miller |
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| Rok vydání: | 2008 |
| Předmět: |
Genetics
Polycystic Kidney Diseases Tumor Suppressor Proteins Cilium Epithelial Cells Mice Transgenic Biology Hair follicle medicine.disease Phenotype Ciliopathies Article Cell biology Disease Models Animal Mice medicine.anatomical_structure Intraflagellar transport medicine Polycystic kidney disease Animals Humans Cilia IFT88 Gene Developmental Biology Follicular dysplasia |
| Zdroj: | Developmental Dynamics. 237:1960-1971 |
| ISSN: | 1097-0177 1058-8388 |
| DOI: | 10.1002/dvdy.21515 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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