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Updated: May 5, 2026
10:17
An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations
Published on: November 3, 2010
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Mouse genomic variation and its effect on phenotypes and gene regulation
Thomas M Keane1, Leo Goodstadt, Petr Danecek
1The Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1HH, UK.
Nature
|September 17, 2011
Summary
Researchers sequenced 17 inbred mouse strains, discovering ten times more genetic variants. This research advances understanding of mouse genomics, gene expression, and trait variation, paving the way for future functional studies.
Area of Science:
- Genomics
- Molecular Biology
- Bioinformatics
Background:
- The laboratory mouse is a crucial model organism in biomedical research.
- Previous genomic data for inbred mouse strains were limited, hindering comprehensive genetic analysis.
Purpose of the Study:
- To generate high-quality genome sequences for 17 inbred mouse strains.
- To identify a comprehensive set of genetic variants within these strains.
- To explore the functional implications of genetic variation on gene expression and trait inheritance.
Main Methods:
- Whole-genome sequencing of 17 inbred mouse strains.
- Variant calling and annotation.
- Analysis of allele-specific expression and quantitative trait loci (QTL).
Main Results:
- Identification of nearly ten times more genetic variants compared to previous studies.
- Discovery that at least 12% of transcripts exhibit tissue-specific expression bias.
- Characterization of functional variants at 718 QTL, showing variation in molecular nature and position relative to gene effect size.
Conclusions:
- The generated genome sequences provide a valuable resource for the mouse research community.
- These data enable a deeper understanding of genotype-phenotype relationships in mice.
- This work initiates a new phase for functional genomics in this key model organism.
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