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

Détails

Ressource 1Télécharger: BIB_90419D2019AD.P001.pdf (6003.12 [Ko])
Etat: Public
Version: Final published version
ID Serval
serval:BIB_90419D2019AD
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Titre
A comparative phenotypic and genomic analysis of C57BL/6J and C57BL/6N mouse strains.
Périodique
Genome Biology
Auteur(s)
Simon M.M., Greenaway S., White J.K., Fuchs H., Gailus-Durner V., Wells S., Sorg T., Wong K., Bedu E., Cartwright E.J., Dacquin R., Djebali S., Estabel J., Graw J., Ingham N.J., Jackson I.J., Lengeling A., Mandillo S., Marvel J., Meziane H., Preitner F., Puk O., Roux M., Adams D.J., Atkins S., Ayadi A., Becker L., Blake A., Brooker D., Cater H., Champy M.F., Combe R., Danecek P., di Fenza A., Gates H., Gerdin A.K., Golini E., Hancock J.M., Hans W., Hölter S.M., Hough T., Jurdic P., Keane T.M., Morgan H., Müller W., Neff F., Nicholson G., Pasche B., Roberson L.A., Rozman J., Sanderson M., Santos L., Selloum M., Shannon C., Southwell A., Tocchini-Valentini G.P., Vancollie V.E., Westerberg H., Wurst W., Zi M., Yalcin B., Ramirez-Solis R., Steel K.P., Mallon A.M., de Angelis M.H., Herault Y., Brown S.D.
ISSN
1465-6914 (Electronic)
ISSN-L
1465-6906
Statut éditorial
Publié
Date de publication
2013
Peer-reviewed
Oui
Volume
14
Numéro
7
Pages
R82
Langue
anglais
Résumé
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.
Mots-clé
Mouse inbred lines, sequence variation, mouse phenotyping, gene knockout, C57BL/6
Pubmed
Web of science
Open Access
Oui
Création de la notice
09/12/2013 15:32
Dernière modification de la notice
20/08/2019 14:53
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