ArticleNature communications2016
Novel gene function revealed by mouse mutagenesis screens for models of age-related disease.
Article in Nature communications, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 65 papers.
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Who cites it
65 citing papers in PubMed.
- Article
- Generation of marmoset monkeys with a non-mosaic disruption of the OTOF gene as a model of human deafness.Nature communications · 2026Article
- Computational prediction of human genetic variants in the mouse genome.Nature biotechnology · 2025Article
- Identifying genetic determinants of outer retinal function in mice using a large-scale gene-targeted screen.PLoS genetics · 2025Article
- Computational modeling of human genetic variants in mice.bioRxiv : the preprint server for biology · 2025Article
- Advancing precision ear medicine: leveraging animal models for disease insights and therapeutic innovations.Mammalian genome : official journal of the International Mammalian Genome Society · 2025Review
- Myosin-based nucleation of actin filaments contributes to stereocilia development critical for hearing.Nature communications · 2025Article
- The BBS/CCT chaperonin complex ensures the localization of the adhesion G protein-coupled receptor ADGRV1 to the base of primary cilia.Frontiers in cell and developmental biology · 2025Article
- Article
- Modelling human genetic disorders in Xenopus tropicalis.Disease models & mechanisms · 2024Review
- Biallelic variants in SLC4A10 encoding a sodium-dependent bicarbonate transporter lead to a neurodevelopmental disorder.Genetics in medicine : official journal of the American College of Medical Genetics · 2024Article
- Article
- Absence of Embigin accelerates hearing loss and causes sub-viability, brain and heart defects in C57BL/6N mice due to interaction withiScience · 2023Article
- Tissue-specific differences in the assembly of mitochondrial Complex I are revealed by a novel ENU mutation in ECSIT.Cardiovascular research · 2023Article
- Age-related hearing loss and its potential drug candidates: a systematic review.Chinese medicine · 2023Review
- Article
- The hair cell analysis toolbox is a precise and fully automated pipeline for whole cochlea hair cell quantification.PLoS biology · 2023Article
- Recessive aminoacyl-tRNA synthetase disorders: lessons learned fromFrontiers in neuroscience · 2023Review
- Early embryonic lethality in complex I associated p.L104P Nubpl mutant mice.Orphanet journal of rare diseases · 2022Article
- Chronically elevated branched chain amino acid levels are pro-arrhythmic.Cardiovascular research · 2022Article
5 more citing papers are in PubMed but not listed here.
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Authors and funding
53 authors.
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Abstract
Determining the genetic bases of age-related disease remains a major challenge requiring a spectrum of approaches from human and clinical genetics to the utilization of model organism studies. Here we report a large-scale genetic screen in mice employing a phenotype-driven discovery platform to identify mutations resulting in age-related disease, both late-onset and progressive. We have utilized N-ethyl-N-nitrosourea mutagenesis to generate pedigrees of mutagenized mice that were subject to recurrent screens for mutant phenotypes as the mice aged. In total, we identify 105 distinct mutant lines from 157 pedigrees analysed, out of which 27 are late-onset phenotypes across a range of physiological systems. Using whole-genome sequencing we uncover the underlying genes for 44 of these mutant phenotypes, including 12 late-onset phenotypes. These genes reveal a number of novel pathways involved with age-related disease. We illustrate our findings by the recovery and characterization of a novel mouse model of age-related hearing loss.
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