Eeyore: a novel mouse model of hereditary deafness
| Autor: | Shehnaaz S.M. Manji, Louise H. Williams, Kerry A. Miller, Hans-Henrik M. Dahl |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2013 |
| Předmět: |
Candidate gene
Hearing loss Ear Middle lcsh:Medicine Biology Deafness 03 medical and health sciences Mice 0302 clinical medicine Chromosome 18 medicine otorhinolaryngologic diseases Animals lcsh:Science Progressive hearing impairment Cochlea 030304 developmental biology Genetics 0303 health sciences Multidisciplinary lcsh:R Genetic Diseases Inborn medicine.disease Phenotype Mice Mutant Strains Disease Models Animal medicine.anatomical_structure Disease Progression Microscopy Electron Scanning Sensorineural hearing loss lcsh:Q Hair cell medicine.symptom 030217 neurology & neurosurgery Research Article |
| Zdroj: | PLoS ONE, Vol 8, Iss 9, p e74243 (2013) PLoS ONE |
| ISSN: | 1932-6203 |
| Popis: | Animal models that recapitulate human disease are proving to be an invaluable tool in the identification of novel disease-associated genes. These models can improve our understanding of the complex genetic mechanisms involved in disease and provide a basis to guide therapeutic strategies to combat these conditions. We have identified a novel mouse model of non-syndromic sensorineural hearing loss with linkage to a region on chromosome 18. Eeyore mutant mice have early onset progressive hearing impairment and show abnormal structure of the sensory epithelium from as early as 4 weeks of age. Ultrastructural and histological analyses show irregular hair cell structure and degeneration of the sensory hair bundles in the cochlea. The identification of new genes involved in hearing is central to understanding the complex genetic pathways involved in the hearing process and the loci at which these pathways are interrupted in people with a genetic hearing loss. We therefore discuss possible candidate genes within the linkage region identified in eeyore that may underlie the deafness phenotype in these mice. Eeyore provides a new model of hereditary sensorineural deafness and will be an important tool in the search for novel deafness genes. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|