ArticleGenome research2015
Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disorders.
Article in Genome research, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers.
What it found
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Who cites it
40 citing papers in PubMed, 69 citations in OpenAlex.
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- Anapc5 and Anapc7 as genetic modifiers of KIF18A function in fertility and mitotic progression.Scientific reports · 2025Article
- Din Oversees Mesenchymal Stem Cell Homeostasis in Mouse Incisors.Research square · 2025Article
- Disordered Electron Transfer: New Forms of Defective Steroidogenesis and Mitochondriopathy.The Journal of clinical endocrinology and metabolism · 2025Review
- The developmental timing of spinal touch processing alterations predicts behavioral changes in genetic mouse models of autism spectrum disorders.Nature neuroscience · 2024Article
- The Past, Present, and Future of Genetically Engineered Mouse Models for Skeletal Biology.Biomolecules · 2023Review
- An allelic series of spontaneous Rorb mutant mice exhibit a gait phenotype, changes in retina morphology and behavior, and gene expression signatures associated with the unfolded protein response.G3 (Bethesda, Md.) · 2023Article
- Reproductive genomics of the mouse: implications for human fertility and infertility.Development (Cambridge, England) · 2023Article
- Witch Nails (Krt90whnl): A spontaneous mouse mutation affecting nail growth and development.PloS one · 2022Article
- Deficiency in Lyst function leads to accumulation of secreted proteases and reduced retinal adhesion.PloS one · 2022Article
- Gabra2 is a genetic modifier of Dravet syndrome in mice.Mammalian genome : official journal of the International Mammalian Genome Society · 2021Article
- Steroidogenic electron-transfer factors and their diseases.Annals of pediatric endocrinology & metabolism · 2021Article
- AGenes · 2021Article
- High-throughput genotyping of high-homology mutant mouse strains by next-generation sequencing.Methods (San Diego, Calif.) · 2021Article
- Inducible knockout of Clec16a in mice results in sensory neurodegeneration.Scientific reports · 2021Article
- A domestic cat whole exome sequencing resource for trait discovery.Scientific reports · 2021Article
- Heart disease in a mutant mouse model of spontaneous eosinophilic myocarditis maps to three loci.BMC genomics · 2019Article
- The mouse curly whiskers (Molecular genetics and metabolism reports · 2019Article
Corrections and comments
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Authors and funding
39 authors at 5 institutions in 3 countries.
Funding
Abstract
Spontaneously arising mouse mutations have served as the foundation for understanding gene function for more than 100 years. We have used exome sequencing in an effort to identify the causative mutations for 172 distinct, spontaneously arising mouse models of Mendelian disorders, including a broad range of clinically relevant phenotypes. To analyze the resulting data, we developed an analytics pipeline that is optimized for mouse exome data and a variation database that allows for reproducible, user-defined data mining as well as nomination of mutation candidates through knowledge-based integration of sample and variant data. Using these new tools, putative pathogenic mutations were identified for 91 (53%) of the strains in our study. Despite the increased power offered by potentially unlimited pedigrees and controlled breeding, about half of our exome cases remained unsolved. Using a combination of manual analyses of exome alignments and whole-genome sequencing, we provide evidence that a large fraction of unsolved exome cases have underlying structural mutations. This result directly informs efforts to investigate the similar proportion of apparently Mendelian human phenotypes that are recalcitrant to exome sequencing.
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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.