{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,31]],"date-time":"2026-05-31T14:03:51Z","timestamp":1780236231979,"version":"3.54.0"},"reference-count":58,"publisher":"SAGE Publications","license":[{"start":{"date-parts":[[2026,5,30]],"date-time":"2026-05-30T00:00:00Z","timestamp":1780099200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"funder":[{"name":"Shanxi Province","award":["20250053"],"award-info":[{"award-number":["20250053"]}]}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Journal of Vestibular Research"],"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Hereditary vestibular dysfunctions (HVDs) are a group of diseases caused by genetic mutations, characterized by congenital or progressive vestibular dysfunction, often accompanied by hearing loss or other systemic damages. These diseases are divided into syndromic (e.g., Usher syndrome, CHARGE syndrome) and non-syndromic types, involving mutations in key genes such as MYO7A, COCH, SLC26A4, TMC1, etc. Although clinical phenotypes vary, the pathogenesis is complex, traditional diagnostic methods are limited, and effective treatments are lacking. Mouse models are important tools for studying hereditary vestibular dysfunction, providing critical platforms for understanding disease mechanisms, developing diagnostic biomarkers, and treatment strategies.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>This review systematically searched English and Chinese literature in databases including PubMed, Web of Science, Embase, and CNKI from January 2000 to April 2026. The search strategy combined Medical Subject Headings (MeSH) terms and free-text keywords, including \u201chereditary vestibular dysfunction,\u201d \u201cmouse models,\u201d \u201cgene therapy,\u201d \u201cCRISPR-Cas9,\u201d \u201cUsher syndrome,\u201d \u201ctranslational research,\u201d \u201cbiomarkers,\u201d \u201cMeniere disease,\u201d and \u201cInternational Mouse Phenotyping Consortium.\u201d Inclusion criteria were: (1) peer-reviewed articles on hereditary vestibular dysfunction mouse models; (2) studies reporting genetic mechanisms, pathophysiology, or therapeutic interventions; and (3) English or Chinese language publications. Exclusion criteria were: (1) non-peer-reviewed conference abstracts or preprints and (2) studies without clear genetic or phenotypic characterization. Two authors independently screened titles, abstracts, and full texts, with disagreements resolved by consensus. The review focuses on analyzing the applications of spontaneous mutation models, genetic engineering models, CRISPR technology-based models, and knockout models from the International Mouse Phenotype Consortium (IMPC) in disease mechanism research and treatment development.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>In recent years, significant progress has been made in hereditary vestibular dysfunction mouse model research. Spontaneous mutation models like Myo6 and Cdh23 mutant mice have revealed the key role of cytoskeletal and cell junctions in vestibular function. Genetic engineering models have successfully simulated a variety of diseases, including Usher syndrome, ion channel defects, and vestibular development abnormalities, elucidating the molecular mechanisms of TMC1\/2 mechanosensory channels, SLC26A4 ion transport, and vestibular system development genes. The application of CRISPR-Cas9 technology has greatly improved model construction efficiency and precision. These models have shown positive results in gene therapy, gene editing, and drug treatment research. AAV-mediated gene replacement therapy, CRISPR gene repair, and new drugs such as \u03b11-antitrypsin have all achieved positive outcomes in mouse models. Biomarker studies based on multi-omics techniques have identified potential diagnostic markers such as Slc17a6 and BDNF.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>Mouse models play an irreplaceable role in the study of hereditary vestibular dysfunction, providing a solid foundation for elucidating disease mechanisms, improving diagnostic methods, and developing treatment strategies. Although clinical translation still faces challenges such as species differences, delivery efficiency, and treatment windows, with the continuous development of gene editing technology, nano-delivery systems, and multi-omics techniques, personalized diagnosis and treatment for hereditary vestibular dysfunction are expected to be realized, bringing new hope to patients.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1177\/09574271261453788","type":"journal-article","created":{"date-parts":[[2026,5,30]],"date-time":"2026-05-30T08:59:02Z","timestamp":1780131542000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["Mouse models and translational research progress of hereditary vestibular dysfunction"],"prefix":"10.1177","author":[{"ORCID":"https:\/\/orcid.org\/0009-0003-1126-1011","authenticated-orcid":false,"given":"Nannan","family":"Si","sequence":"first","affiliation":[{"name":"Heping Hospital Affiliated to Changzhi Medical College"},{"name":"Shanxi Medical University"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ling","family":"Jin","sequence":"additional","affiliation":[{"name":"Shanxi Medical University"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wei","family":"Chang","sequence":"additional","affiliation":[{"name":"Heping Hospital Affiliated to Changzhi Medical College"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fengli","family":"Cheng","sequence":"additional","affiliation":[{"name":"Shanxi Medical University"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Changqing","family":"Zhao","sequence":"additional","affiliation":[{"name":"Shanxi Medical University"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Limin","family":"Suo","sequence":"additional","affiliation":[{"name":"Shanxi Medical University"},{"name":"Department of Otolaryngology Head Neck Surgery, the Second Hospital, Shanxi Key Laboratory of Rapid Diagnosis and Precision Treatment of Airway Allergic Diseases, Taiyuan, China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2026,5,30]]},"reference":[{"key":"e_1_3_5_2_2","volume-title":"StatPearls. 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