ReviewMammalian genome : official journal of the International Mammalian Genome Society2019
New models for human disease from the International Mouse Phenotyping Consortium.
Review in Mammalian genome : official journal of the International Mammalian Genome Society, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 52 papers, 1 of them a synthesis that pooled it.
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
52 citing papers in PubMed, 1 synthesis or guideline pooled it, 69 citations in OpenAlex.
- Mouse phenome database: curated data repository with interactive multi-population and multi-trait analyses.Mammalian genome : official journal of the International Mammalian Genome Society · 2023Pooled it
- Frailty assessment in naturally aged mouse models: classification, limitations, and future directions.GeroScience · 2026Review
- The Kifc3 Motor Protein Controls Centrosomal Factor Cep192 in Ontogenic Coordination of Megakaryocyte Development.bioRxiv : the preprint server for biology · 2026Article
- Xenbase: A Guide to the Xenopus Genetics and Genomics Knowledgebase.Methods in molecular biology (Clifton, N.J.) · 2026Article
- GAMT Deficiency: Clinical Presentation, Treatment, Diagnosis, Animal Models, Preclinical and Clinical Developments.International journal of molecular sciences · 2025Review
- Functional Determinants and Evolutionary Consequences of Pleiotropy in Complex and Mendelian Traits.Molecular biology and evolution · 2025Article
- Novel mouse model reveals neurodevelopmental origin of PMM2-CDG brain pathology.bioRxiv : the preprint server for biology · 2025Article
- A graph theoretical approach to experimental prioritization in genome-scale investigations.Mammalian genome : official journal of the International Mammalian Genome Society · 2024Article
- Lethal phenotypes in Mendelian disorders.Genetics in medicine : official journal of the American College of Medical Genetics · 2024Article
- Loss-of-functionJBMR plus · 2024Article
- Computational identification of disease models through cross-species phenotype comparison.Disease models & mechanisms · 2024Article
- Malignant peritoneal mesothelioma interactome with 417 novel protein-protein interactions.BJC reports · 2024Article
- Improving prenatal diagnosis through standards and aggregation.Prenatal diagnosis · 2024Review
- Modeling Normal Mouse Uterine Contraction and Placental Perfusion with Non-invasive Longitudinal Dynamic Contrast Enhancement MRI.bioRxiv : the preprint server for biology · 2024Article
- Lethal phenotypes in Mendelian disorders.medRxiv : the preprint server for health sciences · 2024Article
- Modeling normal mouse uterine contraction and placental perfusion with non-invasive longitudinal dynamic contrast enhancement MRI.PloS one · 2024Article
- Fishing Innate Immune System Properties through the Transcriptomic Single-Cell Data ofBiology · 2023Review
- A review of standardized high-throughput cardiovascular phenotyping with a link to metabolism in mice.Mammalian genome : official journal of the International Mammalian Genome Society · 2023Review
- Knockout mice are an important tool for human monogenic heart disease studies.Disease models & mechanisms · 2023Article
- FOXI3 pathogenic variants cause one form of craniofacial microsomia.Nature communications · 2023Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 2 institutions in 2 countries.
Funding
Abstract
The International Mouse Phenotyping Consortium (IMPC) continues to expand the catalogue of mammalian gene function by conducting genome and phenome-wide phenotyping on knockout mouse lines. The extensive and standardized phenotype screens allow the identification of new potential models for human disease through cross-species comparison by computing the similarity between the phenotypes observed in the mutant mice and the human phenotypes associated to their orthologous loci in Mendelian disease. Here, we present an update on the novel disease models available from the most recent data release (DR10.0), with 5861 mouse genes fully or partially phenotyped and a total number of 69,982 phenotype calls reported. With approximately one-third of human Mendelian genes with orthologous null mouse phenotypes described, the range of available models relevant for human diseases keeps increasing. Among the breadth of new data, we identify previously uncharacterized disease genes in the mouse and additional phenotypes for genes with existing mutant lines mimicking the associated disorder. The automated and unbiased discovery of relevant models for all types of rare diseases implemented by the IMPC constitutes a powerful tool for human genetics and precision medicine.
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.