ArticleJournal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research2021
Germline Saturation Mutagenesis Induces Skeletal Phenotypes in Mice.
Article in Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
12 citing papers in PubMed, 11 citations in OpenAlex.
- FAM20B Related Skeletal Dysplasia: Expanding the Prenatal Phenotype.Clinical genetics · 2026Article
- PPa1 insufficiency drives lysosomal storage disease and inflammatory macrophage expansion in the bone marrow.bioRxiv : the preprint server for biology · 2026Article
- Article
- The importance of imperfect pre-clinical models in adolescent idiopathic scoliosis.Disease models & mechanisms · 2025Review
- KBTBD2 controls bone development by regulating IGF-1 signaling during osteoblast differentiation.Cell death and differentiation · 2025Article
- Deep Learning-Based Automated Measurement of Murine Bone Length in Radiographs.Bioengineering (Basel, Switzerland) · 2024Article
- Viable mutations of mouse midnolin suppress B cell malignancies.The Journal of experimental medicine · 2024Article
- De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features.American journal of human genetics · 2024Article
- Genetic determinants of blood pressure and heart rate identified through ENU-induced mutagenesis with automated meiotic mapping.Science advances · 2024Article
- The Past, Present, and Future of Genetically Engineered Mouse Models for Skeletal Biology.Biomolecules · 2023Review
- Deficiency ofInternational journal of molecular sciences · 2023Article
- Saturation mutagenesis defines novel mouse models of severe spine deformity.Disease models & mechanisms · 2021Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
23 authors at 6 institutions in 1 country.
Funding
Abstract
Proper embryonic and postnatal skeletal development require coordination of myriad complex molecular mechanisms. Disruption of these processes, through genetic mutation, contributes to variation in skeletal development. We developed a high-throughput N-ethyl-N-nitrosourea (ENU)-induced saturation mutagenesis skeletal screening approach in mice to identify genes required for proper skeletal development. Here, we report initial results from live-animal X-ray and dual-energy X-ray absorptiometry (DXA) imaging of 27,607 G3 mice from 806 pedigrees, testing the effects of 32,198 coding/splicing mutations in 13,020 genes. A total of 39.7% of all autosomal genes were severely damaged or destroyed by mutations tested twice or more in the homozygous state. Results from our study demonstrate the feasibility of in vivo mutagenesis to identify mouse models of skeletal disease. Furthermore, our study demonstrates how ENU mutagenesis provides opportunities to create and characterize putative hypomorphic mutations in developmentally essential genes. Finally, we present a viable mouse model and case report of recessive skeletal disease caused by mutations in FAM20B. Results from this study, including engineered mouse models, are made publicly available via the online Mutagenetix database. © 2021 American Society for Bone and Mineral Research (ASBMR).
Indexed as
Identifiers
What OpenQuestion holds
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.