ReviewDisease models & mechanisms2019
Predicting human disease mutations and identifying drug targets from mouse gene knockout phenotyping campaigns.
Review in Disease models & mechanisms, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 24 citations in OpenAlex.
- Acyl-CoA Synthetase 5 Knockout and Inhibitors Protect Against Diet-Induced Obesity in Mice by Activating the Ileal Brake.Journal of the Endocrine Society · 2026Article
- International Mouse Phenotyping Consortium Portal: facilitating investigation of gene function and providing insights into human disease.Nucleic acids research · 2026Article
- Identification ofFrontiers in immunology · 2026Review
- International Mouse Phenotyping Consortium: Investigating gene function and providing insights into human disease.bioRxiv : the preprint server for biology · 2025Article
- Cathepsin B Gene Knockout Improves Behavioral Deficits and Reduces Pathology in Models of Neurologic Disorders.Pharmacological reviews · 2022Review
- Contribution of model organism phenotypes to the computational identification of human disease genes.Disease models & mechanisms · 2022Article
- Mice LackingDiabetes, metabolic syndrome and obesity : targets and therapy · 2022Article
- The role of RNA modification in hepatocellular carcinoma.Frontiers in pharmacology · 2022Review
- Fermitin family homolog 2 (Kindlin-2) affects vascularization during the wound healing process by regulating the Wnt/β-catenin signaling pathway in vascular endothelial cells.Bioengineered · 2021Article
- A comprehensive review of integrative pharmacology-based investigation: A paradigm shift in traditional Chinese medicine.Acta pharmaceutica Sinica. B · 2021Review
- Proteotyping of knockout mouse strains reveals sex- and strain-specific signatures in blood plasma.NPJ systems biology and applications · 2021Article
- Rare versus common diseases: a false dichotomy in precision medicine.NPJ genomic medicine · 2021Review
- High-Throughput Screening of Mouse Gene Knockouts Identifies Established and Novel High Body Fat Phenotypes.Diabetes, metabolic syndrome and obesity : targets and therapy · 2021Article
- An Automated Functional Annotation Pipeline That Rapidly Prioritizes Clinically Relevant Genes for Autism Spectrum Disorder.International journal of molecular sciences · 2020Article
- The Deep Genome Project.Genome biology · 2020Article
- Obesity ofDiabetes, metabolic syndrome and obesity : targets and therapy · 2020Article
- High Fidelity of Mouse Models Mimicking Human Genetic Skeletal Disorders.Frontiers in endocrinology · 2019Review
Corrections and comments
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Authors and funding
3 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Two large-scale mouse gene knockout phenotyping campaigns have provided extensive data on the functions of thousands of mammalian genes. The ongoing International Mouse Phenotyping Consortium (IMPC), with the goal of examining all ∼20,000 mouse genes, has examined 5115 genes since 2011, and phenotypic data from several analyses are available on the IMPC website (www.mousephenotype.org). Mutant mice having at least one human genetic disease-associated phenotype are available for 185 IMPC genes. Lexicon Pharmaceuticals' Genome5000™ campaign performed similar analyses between 2000 and the end of 2008 focusing on the druggable genome, including enzymes, receptors, transporters, channels and secreted proteins. Mutants (4654 genes, with 3762 viable adult homozygous lines) with therapeutically interesting phenotypes were studied extensively. Importantly, phenotypes for 29 Lexicon mouse gene knockouts were published prior to observations of similar phenotypes resulting from homologous mutations in human genetic disorders. Knockout mouse phenotypes for an additional 30 genes mimicked previously published human genetic disorders. Several of these models have helped develop effective treatments for human diseases. For example, studying
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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.