ArticleCell2000
The deaf jerker mouse has a mutation in the gene encoding the espin actin-bundling proteins of hair cell stereocilia and lacks espins.
Article in Cell, 2000. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 139 papers.
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Who cites it
139 citing papers in PubMed, 269 citations in OpenAlex.
- A comparative single-cell transcriptomic atlas for diverse populations of vertebrate hair cells.bioRxiv : the preprint server for biology · 2026Article
- Rescue of stereocilia architecture and hearing function by AAV-CIB2 and AAV-CIB3 in a mouse model of recessive deafness DFNB48.Molecular therapy : the journal of the American Society of Gene Therapy · 2026Article
- Synergistic assembly, disassembly, and protection of complex forms of bundled F-actin.The Journal of cell biology · 2026Article
- Protocadherin 20 Is a POU Class 2 Homeobox 3 Target Gene Required for Proper Tuft Cell Microvillus Organization.Cellular and molecular gastroenterology and hepatology · 2026Article
- Testicular somatic and germ cell maturation during rhesus macaque development.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- The mechanism of CaThe Journal of biological chemistry · 2025Article
- Current approaches for Usher syndrome disease models and developing therapies.Frontiers in cell and developmental biology · 2025Review
- Organization of a cytoskeletal superstructure in the apical domain of intestinal tuft cells.The Journal of cell biology · 2024Article
- Pathophysiology of human hearing loss associated with variants in myosins.Frontiers in physiology · 2024Review
- Myosin XVA isoforms participate in the mechanotransduction-dependent remodeling of the actin cytoskeleton in auditory stereocilia.Frontiers in neurology · 2024Article
- The role of Espin in the stereocilia regeneration and protection in Atoh1-overexpressed cochlear epithelium.Cell proliferation · 2023Article
- The actin cytoskeleton in hair bundle development and hearing loss.Hearing research · 2023Review
- Control of stereocilia length during development of hair bundles.PLoS biology · 2023Article
- The morphological and functional diversity of apical microvilli.Journal of anatomy · 2023Review
- Actin Bundles Dynamics and Architecture.Biomolecules · 2023Review
- Single-cell RNA-sequencing analysis of the developing mouse inner ear identifies molecular logic of auditory neuron diversification.Nature communications · 2022Article
- Espin overexpression causes stereocilia defects and provides an anti-capping effect on actin polymerization.Cytoskeleton (Hoboken, N.J.) · 2022Article
- Genetics, pathogenesis and therapeutic developments for Usher syndrome type 2.Human genetics · 2022Review
- Human deafness-associated variants alter the dynamics of key molecules in hair cell stereocilia F-actin cores.Human genetics · 2022Review
- The genetic and phenotypic landscapes of Usher syndrome: from disease mechanisms to a new classification.Human genetics · 2022Review
79 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
Abstract
The espins are actin-bundling proteins of brush border microvilli and Sertoli cell-spermatid junctions. We have determined that espins are also present in hair cell stereocilia and have uncovered a connection between the espin gene and jerker, a recessive mutation that causes hair cell degeneration, deafness, and vestibular dysfunction. The espin gene maps to the same region of mouse chromosome 4 as jerker. The tissues of jerker mice do not accumulate espin proteins but contain normal levels of espin mRNAs. The espin gene of jerker mice has a frameshift mutation that affects the espin C-terminal actin-bundling module. These data suggest that jerker mice are, in effect, espin null and that the jerker phenotype results from a mutation in the espin gene.
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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.