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A comparative phenotypic and genomic analysis of C57BL/6J and C57BL/6N mouse strains.
Genome Biol. 14:R82 (2013)
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.
Impact Factor
Scopus SNIP
Web of Science
Times Cited
Times Cited
Scopus
Cited By
Cited By
Altmetric
10.288
1.888
254
291
Anmerkungen
Besondere Publikation
Auf Hompepage verbergern
Publikationstyp
Artikel: Journalartikel
Dokumenttyp
Wissenschaftlicher Artikel
Schlagwörter
Mouse Inbred Lines ; Sequence Variation ; Mouse Phenotyping ; Gene Knockout ; C57bl/6; Sequencing Data ; Complex Traits ; Gene-function ; Resource ; Mice ; Europhenome ; Annotation ; Substrains ; Variants ; Database
Sprache
englisch
Veröffentlichungsjahr
2013
HGF-Berichtsjahr
2013
ISSN (print) / ISBN
1474-760X
e-ISSN
1465-6906
Zeitschrift
Genome Biology
Quellenangaben
Band: 14,
Heft: 7,
Artikelnummer: R82
Verlag
Biomed Central
Begutachtungsstatus
Peer reviewed
Institut(e)
Institute of Experimental Genetics (IEG)
Institute of Developmental Genetics (IDG)
Institute of Pathology (PATH)
Institute of Developmental Genetics (IDG)
Institute of Pathology (PATH)
POF Topic(s)
30201 - Metabolic Health
30204 - Cell Programming and Repair
30504 - Mechanisms of Genetic and Environmental Influences on Health and Disease
30204 - Cell Programming and Repair
30504 - Mechanisms of Genetic and Environmental Influences on Health and Disease
Forschungsfeld(er)
Genetics and Epidemiology
Enabling and Novel Technologies
Enabling and Novel Technologies
PSP-Element(e)
G-500600-003
G-500600-001
G-500500-001
G-500500-002
G-500300-001
G-500600-001
G-500500-001
G-500500-002
G-500300-001
PubMed ID
23902802
WOS ID
WOS:000328194900014
Erfassungsdatum
2013-08-15