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Mouse models to study inner ear development and hereditary hearing loss

期刊

INTERNATIONAL JOURNAL OF DEVELOPMENTAL BIOLOGY
卷 51, 期 6-7, 页码 609-631

出版社

UNIV BASQUE COUNTRY UPV-EHU PRESS
DOI: 10.1387/ijdb.072365lf

关键词

mouse; inner ear development; deafness gene; hearing

资金

  1. NIDCD NIH HHS [R01 DC005641] Funding Source: Medline
  2. NATIONAL INSTITUTE ON DEAFNESS AND OTHER COMMUNICATION DISORDERS [R01DC005641] Funding Source: NIH RePORTER

向作者/读者索取更多资源

Hereditary sensorineural hearing loss, derived from inner ear defects, is the most common hereditary disability with a prevalence of 1 in 1000 children, although it can be present in up to 15% of births in isolated communities. The mouse serves as an ideal animal model to identify new deafness-related genes and to study their roles in vivo. This review describes mouse models for genes that have been linked with hearing impairment (HI) in humans. Mutations in several groups of genes have been linked with HI in both mice and humans. Mutant mice have been instrumental in elucidating the function and mechanisms of the inner ear. For example, the roles of collagens and tectorins in the tectorial membrane, as well as the necessity of intact links between the hair cell projections, stereocilia and kinocilia, have been discovered in mice. Accurate endolymph composition and the proteins which participate in its production were found to be crucial for inner ear function, as well as several motor proteins such as prestin and myosins. Two systematic projects, KOMP and EUCOMM, which are currently being carried out to create knockout and conditional mutants for every gene in the mouse genome, promise that many additional deafness-related genes will be identified in the next years, providing models for all forms of human deafness.

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