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Autor(en) / Beteiligte

Titel

Analysis of mammalian gene function through broad-based phenotypic screens across a consortium of mouse clinics

Ist Teil von

Ort / Verlag

United States: Nature Publishing Group

Erscheinungsjahr

2015

Quelle

MEDLINE

Beschreibungen/Notizen

The function of the majority of genes in the mouse and human genomes remains unknown. The mouse embryonic stem cell knockout resource provides a basis for the characterization of relationships between genes and phenotypes. The EUMODIC consortium developed and validated robust methodologies for the broad-based phenotyping of knockouts through a pipeline comprising 20 disease-oriented platforms. We developed new statistical methods for pipeline design and data analysis aimed at detecting reproducible phenotypes with high power. We acquired phenotype data from 449 mutant alleles, representing 320 unique genes, of which half had no previous functional annotation. We captured data from over 27,000 mice, finding that 83% of the mutant lines are phenodeviant, with 65% demonstrating pleiotropy. Surprisingly, we found significant differences in phenotype annotation according to zygosity. New phenotypes were uncovered for many genes with previously unknown function, providing a powerful basis for hypothesis generation and further investigation in diverse systems.

Sprache: Englisch
Identifikatoren: ISSN: 1061-4036
eISSN: 1546-1718
DOI: 10.1038/ng.3360
Titel-ID: cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4564951

Format: –
Schlagworte: Animals, Consortia, Female, Gene mutations, Genetic Association Studies, Genomes, Genotype & phenotype, Heterozygote, Homozygote, Human genome, Humans, Male, Metabolism, Mice, Inbred C57BL, Mice, Knockout, Molecular Sequence Annotation, Mutation, Phenotype, Physiology, Power

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