The Oak Ridge Polycystic Kidney Mouse: Modeling Ciliopathies of Mice and Men

Overview

Journal Dev Dyn

Publisher Wiley

Specialty Anatomy & Histology

Date 2008 Mar 28

PMID 18366137

Citations 64

Authors

Jonathan M Lehman

Edward J Michaud

Trenton R Schoeb

Yesim Aydin-Son

Michael Miller

Bradley K Yoder

Affiliations

Soon will be listed here.

Abstract

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.

Citing Articles

Ciliary and Non-Ciliary Roles of IFT88 in Development and Diseases.

Wang X, Yin G, Yang Y, Tian X Int J Mol Sci. 2025; 26(5).

PMID: 40076734 PMC: 11901018. DOI: 10.3390/ijms26052110.

Small molecule treatment alleviates photoreceptor cilia defects in LCA5-deficient human retinal organoids.

Athanasiou D, Afanasyeva T, Chai N, Ziaka K, Jovanovic K, Guarascio R Acta Neuropathol Commun. 2025; 13(1):26.

PMID: 39934925 PMC: 11817871. DOI: 10.1186/s40478-025-01943-y.

Investigating the Role of Primary Cilia and Bone Morphogenetic Protein Signaling in Periodontal Ligament Response to Orthodontic Strain In Vivo and In Vitro: A Pilot Study.

Moore E, Konermann A Int J Mol Sci. 2024; 25(23).

PMID: 39684361 PMC: 11640950. DOI: 10.3390/ijms252312648.

Primary cilia and actin regulatory pathways in renal ciliopathies.

Kalot R, Sentell Z, Kitzler T, Torban E Front Nephrol. 2024; 3:1331847.

PMID: 38292052 PMC: 10824913. DOI: 10.3389/fneph.2023.1331847.

Primary cilia are critical for tracheoesophageal septation.

Fitzsimons L, Tasouri E, Willaredt M, Stetson D, Gojak C, Kirsch J Dev Dyn. 2023; 253(3):312-332.

PMID: 37776236 PMC: 10922539. DOI: 10.1002/dvdy.660.

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