Murine phenotypes are modified by genetic Cep 290 backgrounds and provide an impetus for investigating disease

نویسندگان

  • Eugen Boltshauser
  • Russell J. Ferland
  • Simon Ramsbottom
  • Colin Miles
  • John A. Sayer
چکیده

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 , a frequent genetic cause of Joubert Cep290 syndrome in order to refine our concept of genotype-phenotype correlations. Simon Ramsbottom ( ) Corresponding author: [email protected] Ramsbottom S, Miles C and Sayer JA. How to cite this article: Murine phenotypes are modified by genetic backgrounds and Cep29

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

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 ...

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تاریخ انتشار 2016