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    A comparative phenotypic and genomic analysis of C57BL/6J and C57BL/6N mouse strains

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    Authors
    Simon, Michelle M
    Greenaway, Simon
    White, Jacqueline K
    Fuchs, Helmut
    Gailus-Durner, Valérie
    Wells, Sara
    Sorg, Tania
    Wong, Kim
    Bedu, Elodie
    Cartwright, Elizabeth J
    Dacquin, Romain
    Djebali, Sophia
    Estabel, Jeanne
    Graw, Jochen
    Ingham, Neil J
    Jackson, Ian J
    Lengeling, Andreas
    Mandillo, Silvia
    Marvel, Jacqueline
    Meziane, Hamid
    Preitner, Frédéric
    Puk, Oliver
    Roux, Michel
    Adams, David J
    Atkins, Sarah
    Ayadi, Abdel
    Becker, Lore
    Blake, Andrew
    Brooker, Debra
    Cater, Heather
    Champy, Marie-France
    Combe, Roy
    Danecek, Petr
    di Fenza, Armida
    Gates, Hilary
    Gerdin, Anna-Karin
    Golini, Elisabetta
    Hancock, John M
    Hans, Wolfgang
    Hölter, Sabine M
    Hough, Tertius
    Jurdic, Pierre
    Keane, Thomas M
    Morgan, Hugh
    Müller, Werner
    Neff, Frauke
    Nicholson, George
    Pasche, Bastian
    Roberson, Laura-Anne
    Rozman, Jan
    Sanderson, Mark
    Santos, Luis
    Selloum, Mohammed
    Shannon, Carl
    Southwell, Anne
    Tocchini-Valentini, Glauco P
    Vancollie, Valerie E
    Westerberg, Henrik
    Wurst, Wolfgang
    Zi, Min
    Yalcin, Binnaz
    Ramirez-Solis, Ramiro
    Steel, Karen P
    Mallon, Ann-Marie
    Hrabě de Angelis, Martin
    Herault, Yann
    Brown, Steve D
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    Issue Date
    2013-07-31
    
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    Abstract
    Abstract Background The mouse inbred line C57BL/6J is widely used in mouse genetics and its genome has been incorporated into many genetic reference populations. More recently large initiatives such as the International Knockout Mouse Consortium (IKMC) are using the C57BL/6N mouse strain to generate null alleles for all mouse genes. Hence both strains are now widely used in mouse genetics studies. Here we perform a comprehensive genomic and phenotypic analysis of the two strains to identify differences that may influence their underlying genetic mechanisms. Results We undertake genome sequence comparisons of C57BL/6J and C57BL/6N to identify SNPs, indels and structural variants, with a focus on identifying all coding variants. We annotate 34 SNPs and 2 indels that distinguish C57BL/6J and C57BL/6N coding sequences, as well as 15 structural variants that overlap a gene. In parallel we assess the comparative phenotypes of the two inbred lines utilizing the EMPReSSslim phenotyping pipeline, a broad based assessment encompassing diverse biological systems. We perform additional secondary phenotyping assessments to explore other phenotype domains and to elaborate phenotype differences identified in the primary assessment. We uncover significant phenotypic differences between the two lines, replicated across multiple centers, in a number of physiological, biochemical and behavioral systems. Conclusions Comparison of C57BL/6J and C57BL/6N demonstrates a range of phenotypic differences that have the potential to impact upon penetrance and expressivity of mutational effects in these strains. Moreover, the sequence variants we identify provide a set of candidate genes for the phenotypic differences observed between the two strains.
    Citation
    Genome Biology. 2013 Jul 31;14(7):R82
    URI
    http://dx.doi.org/10.1186/gb-2013-14-7-r82
    http://hdl.handle.net/10033/620694
    Type
    Journal Article
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    publications of the research group infection genetics (INFG)

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