ArticleThe American journal of pathology2011
An ENU-induced mutation of Cdh23 causes congenital hearing loss, but no vestibular dysfunction, in mice.
Article in The American journal of pathology, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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18 citing papers in PubMed, 28 citations in OpenAlex.
- Cdh23 Gene Mutation-Induced Vestibular Dysfunction in Mice: Abnormal Stereocilia Bundle and Otolith Development and Activation of p53/FoxO Signaling Pathway.Journal of molecular neuroscience : MN · 2025Article
- The Role of Calcium Signaling in Sensorineural Hearing Loss.International journal of medical sciences · 2025Review
- Comparison of vestibular function in hereditary hearing loss patients with GJB2, CDH23, and SLC26A4 variants.Scientific reports · 2024Article
- D-Galactose and Hypoxia Induce the Early Onset of Age-Related Hearing Loss Deterioration in a Mouse Model.Tissue engineering and regenerative medicine · 2023Article
- Transcriptomic Analyses of Inner Ear Sensory Epithelia in Zebrafish.Anatomical record (Hoboken, N.J. : 2007) · 2020Article
- Mice heterozygous for the Cdh23/Ahl1 mutation show age-related deficits in auditory temporal processing.Neurobiology of aging · 2019Article
- Zooming in on Cadherin-23: Structural Diversity and Potential Mechanisms of Inherited Deafness.Structure (London, England : 1993) · 2018Article
- Beyond Cell-Cell Adhesion: Sensational Cadherins for Hearing and Balance.Cold Spring Harbor perspectives in biology · 2018Review
- Germline Mutations in CDH23, Encoding Cadherin-Related 23, Are Associated with Both Familial and Sporadic Pituitary Adenomas.American journal of human genetics · 2017Article
- Application of Mouse Models to Research in Hearing and Balance.Journal of the Association for Research in Otolaryngology : JARO · 2016Review
- ER stress inhibitor attenuates hearing loss and hair cell death in Cdh23Cell death & disease · 2016Article
- Differential effects of Cdh23(753A) on auditory and vestibular functional aging in C57BL/6J mice.Neurobiology of aging · 2016Article
- Tauroursodeoxycholic acid prevents hearing loss and hair cell death in Cdh23(erl/erl) mice.Neuroscience · 2016Article
- A new Otogelin ENU mouse model for autosomal-recessive nonsyndromic moderate hearing impairment.SpringerPlus · 2015Article
- Cauli: a mouse strain with an Ift140 mutation that results in a skeletal ciliopathy modelling Jeune syndrome.PLoS genetics · 2013Article
- Compound heterozygosity of the functionally null Cdh23(v-ngt) and hypomorphic Cdh23(ahl) alleles leads to early-onset progressive hearing loss in mice.Experimental animals · 2013Article
- Eeyore: a novel mouse model of hereditary deafness.PloS one · 2013Article
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9 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mutations in the human cadherin 23 (CDH23) gene cause deafness, neurosensory, autosomal recessive 12 (DFNB12) nonsyndromic hearing loss or Usher syndrome, type 1D (characterized by hearing impairment, vestibular dysfunction, and visual impairment). Reported waltzer mouse strains each harbor a Cdh23-null mutation and present with hearing loss and vestibular dysfunction. Two additional Cdh23 mouse mutants, salsa and erlong, each carry a homozygous Cdh23 missense mutation and have progressive hearing loss. We report the identification of a novel mouse strain, jera, with inherited hearing loss caused by an N-ethyl-N-nitrosourea-induced c.7079T>A mutation in the Cdh23 gene. The mutation generates a missense change, p.V2360E, in Cdh23. Affected mice have profound sensorineural deafness, with no vestibular dysfunction. The p.V2360E mutation is semidominant because heterozygous mice have milder and more progressive hearing loss in advanced age. The mutation affects a highly conserved Ca(2+)-binding motif in extracellular domain 22, thought to be important for Cdh23 structure and dimerization. Molecular modeling suggests that the Cdh23(V2360E/V2360E) mutation alters the structural conformation of the protein and affects Ca(2+)-binding properties. Similar to salsa mice, but in contrast to waltzer mice, hair bundle development is normal in jera and hearing loss appears to be due to the loss of tip links. Thus, jera is a novel mouse model for DFNB12.
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