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


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2013-07

AUTHORS

Michelle M Simon, Simon Greenaway, Jacqueline K White, Helmut Fuchs, Valérie Gailus-Durner, Sara Wells, Tania Sorg, Kim Wong, Elodie Bedu, Elizabeth J Cartwright, Romain Dacquin, Sophia Djebali, Jeanne Estabel, Jochen Graw, Neil J Ingham, Ian J Jackson, Andreas Lengeling, Silvia Mandillo, Jacqueline Marvel, Hamid Meziane, Frédéric Preitner, Oliver Puk, Michel Roux, David J Adams, Sarah Atkins, Abdel Ayadi, Lore Becker, Andrew Blake, Debra Brooker, Heather Cater, Marie-France Champy, Roy Combe, Petr Danecek, Armida di Fenza, Hilary Gates, Anna-Karin Gerdin, Elisabetta Golini, John M Hancock, Wolfgang Hans, Sabine M Hölter, Tertius Hough, Pierre Jurdic, Thomas M Keane, Hugh Morgan, Werner Müller, Frauke Neff, George Nicholson, Bastian Pasche, Laura-Anne Roberson, Jan Rozman, Mark Sanderson, Luis Santos, Mohammed Selloum, Carl Shannon, Anne Southwell, Glauco P Tocchini-Valentini, Valerie E Vancollie, Henrik Westerberg, Wolfgang Wurst, Min Zi, Binnaz Yalcin, Ramiro Ramirez-Solis, Karen P Steel, Ann-Marie Mallon, Martin Hrabě de Angelis, Yann Herault, Steve DM Brown

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. More... »

PAGES

r82

Identifiers

URI

http://scigraph.springernature.com/pub.10.1186/gb-2013-14-7-r82

DOI

http://dx.doi.org/10.1186/gb-2013-14-7-r82

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1038964979

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/23902802


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768 schema:name Infection and Immunity Division, Roslin Institute, University of Edinburgh, Easter Bush Veterinary Campus, EH25 9RG, Midlothian, UK
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770 https://www.grid.ac/institutes/grid.5326.2 schema:alternateName National Research Council
771 schema:name Consiglio Nazionale delle Ricerche- Cell Biology and Neurobiology Institute, Via E.Ramarini 32, 00015, Monterotondo Scala, Italy
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774 schema:name Faculty of Life Sciences, University of Manchester, Oxford Road, MN13 9PT, Manchester, UK
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777 https://www.grid.ac/institutes/grid.9851.5 schema:alternateName University of Lausanne
778 schema:name Center for Integrative Genomics, University of Lausanne, CH-1015, Lausanne, Switzerland
779 Institut Clinique de la Souris, ICS/MCI, PHENOMIN, GIE CERBM, IGBMC, CNRS, INSERM, 1 Rue Laurent Fries, 67404, Illkirch-Graffenstaden Cedex, France
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