A comparative phenotypic and genomic analysis of C57BL/6J and C57BL/6N mouse strains
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Authors
Simon, Michelle MGreenaway, 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
Issue Date
2013-07-31
Metadata
Show full item recordAbstract
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):R82Type
Journal Article