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 mo...

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Detalles Bibliográficos
Autores principales: Ramsbottom, Simon, Miles, Colin, Sayer, John
Formato: Online Artículo Texto
Lenguaje:English
Publicado: F1000Research 2015
Materias:
Correspondence
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4648220/
https://www.ncbi.nlm.nih.gov/pubmed/26594343
http://dx.doi.org/10.12688/f1000research.6959.1
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author Ramsbottom, Simon
Miles, Colin
Sayer, John
author_facet Ramsbottom, Simon
Miles, Colin
Sayer, John
author_sort Ramsbottom, Simon
collection PubMed
description 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.
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spelling pubmed-46482202015-11-20 Murine Cep290 phenotypes are modified by genetic backgrounds and provide an impetus for investigating disease modifier alleles Ramsbottom, Simon Miles, Colin Sayer, John F1000Res Correspondence 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. F1000Research 2015-08-20 /pmc/articles/PMC4648220/ /pubmed/26594343 http://dx.doi.org/10.12688/f1000research.6959.1 Text en Copyright: © 2015 Ramsbottom S et al. http://creativecommons.org/licenses/by/4.0/ This is an open access article distributed under the terms of the Creative Commons Attribution Licence, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Correspondence
Ramsbottom, Simon
Miles, Colin
Sayer, John
Murine Cep290 phenotypes are modified by genetic backgrounds and provide an impetus for investigating disease modifier alleles
title Murine Cep290 phenotypes are modified by genetic backgrounds and provide an impetus for investigating disease modifier alleles
title_full Murine Cep290 phenotypes are modified by genetic backgrounds and provide an impetus for investigating disease modifier alleles
title_fullStr Murine Cep290 phenotypes are modified by genetic backgrounds and provide an impetus for investigating disease modifier alleles
title_full_unstemmed Murine Cep290 phenotypes are modified by genetic backgrounds and provide an impetus for investigating disease modifier alleles
title_short Murine Cep290 phenotypes are modified by genetic backgrounds and provide an impetus for investigating disease modifier alleles
title_sort murine cep290 phenotypes are modified by genetic backgrounds and provide an impetus for investigating disease modifier alleles
topic Correspondence
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4648220/
https://www.ncbi.nlm.nih.gov/pubmed/26594343
http://dx.doi.org/10.12688/f1000research.6959.1
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AT sayerjohn murinecep290phenotypesaremodifiedbygeneticbackgroundsandprovideanimpetusforinvestigatingdiseasemodifieralleles

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