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F1000Res. 2015 Aug 20;4:590. doi: 10.12688/f1000research.6959.1. eCollection 2015.

Murine Cep290 phenotypes are modified by genetic backgrounds and provide an impetus for investigating disease modifier alleles.

Author information

1
Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, NE1 3BZ, UK.

Abstract

The study of primary cilia is of broad interest both in terms of disease pathogenesis and the fundamental biological role of these structures. Murine models of ciliopathies provide valuable tools for the study of these diseases. However, it is important to consider the precise phenotype of murine models and how dependant it is upon genetic background. Here we compare and contrast murine models of Cep290, a frequent genetic cause of Joubert syndrome in order to refine our concept of genotype-phenotype correlations.

KEYWORDS:

Cep290; Joubert syndrome; cilia; cystic kidney; modifier; nephronophthisis

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