ArticlePLoS genetics2012
Rapid-throughput skeletal phenotyping of 100 knockout mice identifies 9 new genes that determine bone strength.
Article in PLoS genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 50 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
50 citing papers in PubMed, 83 citations in OpenAlex.
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- Multiscale analysis and functional validation of the cellular and genetic determinants of skeletal disease.bioRxiv : the preprint server for biology · 2026Article
- Scanning Electron Microscopy and Bone.Methods in molecular biology (Clifton, N.J.) · 2025Article
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- Preclinical Rodent Models for Human Bone Disease, Including a Focus on Cortical Bone.Endocrine reviews · 2024Review
- Genomic Basis of Adaptive Divergence in Leg Length between Ground- and Tree-Dwelling Species within a Bird Family.Genome biology and evolution · 2023Article
- Converging evidence from exome sequencing and common variants implicates target genes for osteoporosis.Nature genetics · 2023Article
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- Behavioral profiling of SLC38A10 knockout mice using the multivariate concentric square fieldFrontiers in behavioral neuroscience · 2022Article
- SLC38A10 Knockout Mice Display a Decreased Body Weight and an Increased Risk-Taking Behavior in the Open Field Test.Frontiers in behavioral neuroscience · 2022Article
- The Bone Cartilage Interface and Osteoarthritis.Calcified tissue international · 2021Review
- Osteocyte transcriptome mapping identifies a molecular landscape controlling skeletal homeostasis and susceptibility to skeletal disease.Nature communications · 2021Article
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- Accelerating functional gene discovery in osteoarthritis.Nature communications · 2021Article
- Bone Phenotyping Approaches in Human, Mice and Zebrafish - Expert Overview of the EU Cost Action GEMSTONE ("GEnomics of MusculoSkeletal traits TranslatiOnal NEtwork").Frontiers in endocrinology · 2021Review
- Mouse mutant phenotyping at scale reveals novel genes controlling bone mineral density.PLoS genetics · 2020Article
- Long-term bisphosphonate treatment coupled with ovariectomy in mice provokes deleterious effects on femoral neck fracture pattern and modifies tibial shape.Bone & joint open · 2020Article
- Article
Corrections and comments
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Authors and funding
14 authors at 5 institutions in 2 countries.
Funding
Abstract
Osteoporosis is a common polygenic disease and global healthcare priority but its genetic basis remains largely unknown. We report a high-throughput multi-parameter phenotype screen to identify functionally significant skeletal phenotypes in mice generated by the Wellcome Trust Sanger Institute Mouse Genetics Project and discover novel genes that may be involved in the pathogenesis of osteoporosis. The integrated use of primary phenotype data with quantitative x-ray microradiography, micro-computed tomography, statistical approaches and biomechanical testing in 100 unselected knockout mouse strains identified nine new genetic determinants of bone mass and strength. These nine new genes include five whose deletion results in low bone mass and four whose deletion results in high bone mass. None of the nine genes have been implicated previously in skeletal disorders and detailed analysis of the biomechanical consequences of their deletion revealed a novel functional classification of bone structure and strength. The organ-specific and disease-focused strategy described in this study can be applied to any biological system or tractable polygenic disease, thus providing a general basis to define gene function in a system-specific manner. Application of the approach to diseases affecting other physiological systems will help to realize the full potential of the International Mouse Phenotyping Consortium.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.