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

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.

SUBMITTER: Ramsbottom S

PROVIDER: S-EPMC4648220 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature

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

Ramsbottom Simon S Miles Colin C Sayer John J

F1000Research 20150820

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-phen ...[more]

PMID: 26594343

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