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Overview of inactivating mutations in the protein-coding genome of the mouse reference strain C57BL/6J
Steven Timmermans, Claude Libert
Steven Timmermans, Claude Libert
Published July 12, 2018
Citation Information: JCI Insight. 2018;3(13):e121758. https://doi.org/10.1172/jci.insight.121758.
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Resource and Technical Advance Genetics

Overview of inactivating mutations in the protein-coding genome of the mouse reference strain C57BL/6J

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Abstract

Mice are extremely important as the premier model organism in human biomedical and mammalian genetic research. The genomes of several tens of mouse inbred strains have been sequenced. They have been compared to the genome of C57BL/6J, considered by convention as the reference genome. Based on a comparison of this reference genome with 36 other sequenced mouse strains, we generated an overview of all protein-coding genes that are deviant in this reference genome, compared with consensus protein-coding mouse gene sequences. We provide PROVEAN scores, reflecting the likelihood that these C57BL/6J proteins have lost function. We thus identified numerous abnormal proteins, and biological pathways, specifically present in C57BL/6J, suggesting the important caveats of this reference mouse strain, and linking candidate genes to some of the best-known phenotypes of this strain.

Authors

Steven Timmermans, Claude Libert

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Figure 2

Schematic overview of the work flow and the comparison of the C57BL/6J genome sequence with the newly generated consensus protein sequences and the generation of the lists of (highly) specific C57BL/6J variations.

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Schematic overview of the work flow and the comparison of the C57BL/6J g...
Data were obtained from the mouse genomes project (MGP) and Ensembl. A consensus amino acid (AA) sequence was constructed for each protein-coding transcript and the C57BL/6J sequences were compared to them. Mutations in C57BL/6J were then scored and classified in 3 groups. Non–stop mutation transcripts were further analyzed with the Protein Variant Effect Analyzer (PROVEAN) software. All data are available as an extension on the mousepost.be website.

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ISSN 2379-3708

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