Gene Symbol: Cdh23
Description: cadherin-related 23
Alias: cadherin-23, Waltzing, cadherin 23 (otocadherin), otocadherin
Species: rat
Products:     Cdh23

Top Publications

  1. Kamiya K, Michel V, Giraudet F, Riederer B, Foucher I, Papal S, et al. An unusually powerful mode of low-frequency sound interference due to defective hair bundles of the auditory outer hair cells. Proc Natl Acad Sci U S A. 2014;111:9307-12 pubmed publisher
    ..Our findings thus reveal a source of misleading interpretations of hearing thresholds and of hypervulnerability to low-frequency sound interference. ..
  2. Wilson S, Householder D, Coppola V, Tessarollo L, Fritzsch B, Lee E, et al. Mutations in Cdh23 cause nonsyndromic hearing loss in waltzer mice. Genomics. 2001;74:228-33 pubmed
    ..Here, we use a positional cloning approach to show that waltzer encodes a novel cadherin (Cdh23), which is most closely related to the Drosophila Fat protein...
  3. Moriyama K, Hashimoto R, Hanai A, Yoshizaki N, Yonezawa S, Otani H. Degenerative hairlets on the vestibular sensory cells in mutant bustling (BUS/Idr) mice. Acta Otolaryngol. 1997;117:20-4 pubmed
  4. Ficarella R, Di Leva F, Bortolozzi M, Ortolano S, Donaudy F, Petrillo M, et al. A functional study of plasma-membrane calcium-pump isoform 2 mutants causing digenic deafness. Proc Natl Acad Sci U S A. 2007;104:1516-21 pubmed
    ..The family also was screened for mutations in cadherin 23, which accentuated hearing loss in a previously described human family with a PMCA2 mutation...
  5. Di Palma F, Holme R, Bryda E, Belyantseva I, Pellegrino R, Kachar B, et al. Mutations in Cdh23, encoding a new type of cadherin, cause stereocilia disorganization in waltzer, the mouse model for Usher syndrome type 1D. Nat Genet. 2001;27:103-7 pubmed
    ..The 10.5-kb Cdh23 cDNA encodes a very large, single-pass transmembrane protein, that we have called otocadherin. It has an extracellular domain that contains 27 repeats; these show significant homology to the cadherin ..
  6. Johnson K, Zheng Q, Weston M, Ptacek L, Noben Trauth K. The Mass1frings mutation underlies early onset hearing impairment in BUB/BnJ mice, a model for the auditory pathology of Usher syndrome IIC. Genomics. 2005;85:582-90 pubmed
    ..We also show an additive effect of the Cdh23 locus in modulating the progression of hearing loss in backcross mice...
  7. Deol M. The anatomy and development of the mutants pirouette, shaker-1 and waltzer in the mouse. Proc R Soc Lond B Biol Sci. 1956;145:206-13 pubmed
  8. Hwang J, Liu K, Wu C, Liu T. Association of cadherin23 single nucleotide polymorphism with age-related hearing impairment in Han Chinese. Otolaryngol Head Neck Surg. 2012;147:531-4 pubmed publisher
    Genetic variation of cadheri23 (cdh23; 753G>A in exon 7) has been implicated with age-related hearing impairment (ARHI) in mice...
  9. Senften M, Schwander M, Kazmierczak P, Lillo C, Shin J, Hasson T, et al. Physical and functional interaction between protocadherin 15 and myosin VIIa in mechanosensory hair cells. J Neurosci. 2006;26:2060-71 pubmed
    ..Together, our findings suggest that PCDH15 and MYO7A cooperate to regulate the development and function of the mechanically sensitive hair bundle. ..

More Information


  1. Harding G, Bohne B, Vos J. The effect of an age-related hearing loss gene (Ahl) on noise-induced hearing loss and cochlear damage from low-frequency noise. Hear Res. 2005;204:90-100 pubmed
    ..However, this appeared not to be the case for PTS. The Ahl gene appears to play a role in susceptibility to NIHL but, other genes as well as systemic and local factors must also be involved. ..
  2. Boëda B, El Amraoui A, Bahloul A, Goodyear R, Daviet L, Blanchard S, et al. Myosin VIIa, harmonin and cadherin 23, three Usher I gene products that cooperate to shape the sensory hair cell bundle. EMBO J. 2002;21:6689-99 pubmed
    ..three distinct genetic forms of Usher type I syndrome (USH1) is caused by defects in myosin VIIa, harmonin and cadherin 23. Despite being critical for hearing, the functions of these proteins in the inner ear remain elusive...
  3. Noben Trauth K, Zheng Q, Johnson K. Association of cadherin 23 with polygenic inheritance and genetic modification of sensorineural hearing loss. Nat Genet. 2003;35:21-3 pubmed
    ..We found a synonymous single-nucleotide polymorphism in exon 7 of Cdh23 that shows significant association with AHL and the deafness modifier mdfw (modifer of deafwaddler)...
  4. Reiners J, Reidel B, El Amraoui A, Boëda B, Huber I, Petit C, et al. Differential distribution of harmonin isoforms and their possible role in Usher-1 protein complexes in mammalian photoreceptor cells. Invest Ophthalmol Vis Sci. 2003;44:5006-15 pubmed
    ..Previous studies have shown that the USH1-proteins myosin VIIa, harmonin, and cadherin 23 interact and form a functional network during hair cell differentiation in the inner ear...
  5. Gillespie P, Muller U. Mechanotransduction by hair cells: models, molecules, and mechanisms. Cell. 2009;139:33-44 pubmed publisher
  6. Michel V, Goodyear R, Weil D, Marcotti W, Perfettini I, Wolfrum U, et al. Cadherin 23 is a component of the transient lateral links in the developing hair bundles of cochlear sensory cells. Dev Biol. 2005;280:281-94 pubmed
    b>Cadherin 23 is required for normal development of the sensory hair bundle, and recent evidence suggests it is a component of the tip links, filamentous structures thought to gate the hair cells' mechano-electrical transducer channels...
  7. Yonezawa S, Yoshiki A, Hanai A, Matsuzaki T, Matsushima J, Kamada T, et al. Chromosomal localization of a gene responsible for vestibulocochlear defects of BUS/Idr mice: identification as an allele of waltzer. Hear Res. 1999;134:116-22 pubmed
    ..The results of allelism tests between BUS and Albany waltzer indicated that bus is allelic with v(Alb). From these data, we propose here that the bus mutation could represent another allele of waltzer, now designated v(bus). ..
  8. Wagatsuma M, Kitoh R, Suzuki H, Fukuoka H, Takumi Y, Usami S. Distribution and frequencies of CDH23 mutations in Japanese patients with non-syndromic hearing loss. Clin Genet. 2007;72:339-44 pubmed
    Mutations in the CDH23 gene are known to be responsible for both Usher syndrome type ID (USH1D) and non-syndromic hearing loss (DFNB12), and the molecular confirmation of the CDH23 gene has become important in the diagnosis of these ..
  9. Schwander M, Sczaniecka A, Grillet N, Bailey J, Avenarius M, Najmabadi H, et al. A forward genetics screen in mice identifies recessive deafness traits and reveals that pejvakin is essential for outer hair cell function. J Neurosci. 2007;27:2163-75 pubmed
  10. Libby R, Kitamoto J, Holme R, Williams D, Steel K. Cdh23 mutations in the mouse are associated with retinal dysfunction but not retinal degeneration. Exp Eye Res. 2003;77:731-9 pubmed
    Mutations in the cadherin 23 gene (CDH23) cause Usher syndrome type 1D in humans, a disease that results in retinitis pigmentosa and deafness. Cdh23 is also mutated in the waltzer mouse...
  11. Holme R, Steel K. Stereocilia defects in waltzer (Cdh23), shaker1 (Myo7a) and double waltzer/shaker1 mutant mice. Hear Res. 2002;169:13-23 pubmed
    Mutations in myosin VIIa (Myo7a) and cadherin 23 (Cdh23) cause deafness in shaker1 (sh1) and waltzer (v) mouse mutants respectively...
  12. Otani H, Moriyama K, Yonezawa S, Shoji R, Tanaka O. Vestibulocochlear defects and effects of deuterium oxide in mutant bustling (BUS) mice. Acta Otolaryngol Suppl. 1995;519:286-93 pubmed
    ..These morphological and functional findings suggest that BUS mice may be a useful model for analysis of the pathogenesis of vestibulo-cochlear disorders. ..
  13. Calderon A, Derr A, Stagner B, Johnson K, Martin G, Noben Trauth K. Cochlear developmental defect and background-dependent hearing thresholds in the Jackson circler (jc) mutant mouse. Hear Res. 2006;221:44-58 pubmed
    ..Genome-wide linkage scans of backcross, intercross, and congenic progeny revealed a complex pattern of genetic and stochastic effects. ..
  14. Roux A, Faugère V, Le Guédard S, Pallares Ruiz N, Vielle A, Chambert S, et al. Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%. J Med Genet. 2006;43:763-8 pubmed
    ..The five genes currently known to cause USH1 (MYO7A, USH1C, CDH23, PCDH15, and USH1G) were tested for...
  15. Keithley E, Canto C, Zheng Q, Fischel Ghodsian N, Johnson K. Age-related hearing loss and the ahl locus in mice. Hear Res. 2004;188:21-8 pubmed
    ..These results illustrate the complex inheritance of age-related hearing loss in mice and may have implications for the study of human presbycusis. ..
  16. Lefevre G, Michel V, Weil D, Lepelletier L, Bizard E, Wolfrum U, et al. A core cochlear phenotype in USH1 mouse mutants implicates fibrous links of the hair bundle in its cohesion, orientation and differential growth. Development. 2008;135:1427-37 pubmed publisher
    ..Mutations in genes encoding myosin VIIa, harmonin, cadherin 23, protocadherin 15 or sans cause Usher syndrome type I (USH1, characterized by congenital deafness, vestibular ..
  17. Yang M, Tan H, Zheng J, Wang F, Jiang C, He M, et al. [Association of cadherin CDH23 gene polymorphisms with noise induced hearing loss in Chinese workers]. Wei Sheng Yan Jiu. 2006;35:19-22 pubmed
    To investigate the association of cadherin 23 gene (CDH23) polymorphisms with the development of noise induced hearing loss (NIHL)...
  18. Selvakumar D, Drescher M, Drescher D. Cyclic nucleotide-gated channel ?-3 (CNGA3) interacts with stereocilia tip-link cadherin 23 + exon 68 or alternatively with myosin VIIa, two proteins required for hair cell mechanotransduction. J Biol Chem. 2013;288:7215-29 pubmed publisher
    ..of the amino terminus of CNGA3 specifically to the carboxyl terminus of stereocilia tip-link protein CDH23 +68 (cadherin 23 with expressed exon 68) by yeast two-hybrid mating and co-transformation protocols, pulldown assays, and ..
  19. Xiong W, Grillet N, Elledge H, Wagner T, Zhao B, Johnson K, et al. TMHS is an integral component of the mechanotransduction machinery of cochlear hair cells. Cell. 2012;151:1283-95 pubmed publisher
    ..We conclude that TMHS is an integral component of the hair cell's mechanotransduction machinery that functionally couples PCDH15 to the transduction channel. ..
  20. Wada T, Wakabayashi Y, Takahashi S, Ushiki T, Kikkawa Y, Yonekawa H, et al. A point mutation in a cadherin gene, Cdh23, causes deafness in a novel mutant, Waltzer mouse niigata. Biochem Biophys Res Commun. 2001;283:113-7 pubmed
    ..Sequence analysis reveals one-base deletion in the cDNA encoding a cadherin-related protein, Cdh23, mutation of which is recently reported in v mutants...
  21. Lagziel A, Ahmed Z, Schultz J, Morell R, Belyantseva I, Friedman T. Spatiotemporal pattern and isoforms of cadherin 23 in wild type and waltzer mice during inner ear hair cell development. Dev Biol. 2005;280:295-306 pubmed
    Mutant alleles of the gene encoding cadherin 23 are associated with Usher syndrome type 1 (USH1D), isolated deafness (DFNB12) in humans, and deafness and circling behavior in waltzer (v) mice...
  22. Kazmierczak P, Muller U. Sensing sound: molecules that orchestrate mechanotransduction by hair cells. Trends Neurosci. 2012;35:220-9 pubmed publisher
    ..We review here recent studies that have both identified some of these molecules and established the mechanisms by which they regulate the activity of the still-elusive mechanotransduction channel. ..
  23. Yonezawa S, Nodasaka Y, Kamada T, Fujita S, Kato K, Yamada Y, et al. Cochlear histopathology of the mutant bustling mouse, BUS/Idr. Acta Otolaryngol. 1996;116:409-16 pubmed
    ..We propose that BUS mice be categorized as a member of the so-called "waltzer-shaker" mutants group. ..
  24. Noben Trauth K, Zheng Q, Johnson K, Nishina P. mdfw: a deafness susceptibility locus that interacts with deaf waddler (dfw). Genomics. 1997;44:266-72 pubmed
    ..Our results reveal an epistatic relationship between the mdfw and the dfw genes and provide a model system to study nonsyndromic hearing loss in mice. ..
  25. Wright A, Chakarova C, Abd El Aziz M, Bhattacharya S. Photoreceptor degeneration: genetic and mechanistic dissection of a complex trait. Nat Rev Genet. 2010;11:273-84 pubmed publisher
    ..Although genetic and mechanistic diversity creates challenges for therapy, some approaches--particularly gene-replacement therapy--are showing considerable promise. ..
  26. Johnson K, Erway L, Cook S, Willott J, Zheng Q. A major gene affecting age-related hearing loss in C57BL/6J mice. Hear Res. 1997;114:83-92 pubmed
    ..ABR test results and cochlear histopathology of aged progenitors of these congenic lines are presented. Ahl is the first gene causing late-onset, non-syndromic hearing loss that has been reported in the mouse...
  27. Phillips K, Tong S, Goodyear R, Richardson G, Cyr J. Stereociliary myosin-1c receptors are sensitive to calcium chelation and absent from cadherin 23 mutant mice. J Neurosci. 2006;26:10777-88 pubmed indicate that Myo1c interacts in vitro with two other molecules proposed to be important for transduction: cadherin 23 (Cdh23), a candidate for the stereociliary tip link, and phosphatidylinositol 4,5-bisphosphate (PIP2), which is ..
  28. Zheng Q, Yan D, Ouyang X, Du L, Yu H, Chang B, et al. Digenic inheritance of deafness caused by mutations in genes encoding cadherin 23 and protocadherin 15 in mice and humans. Hum Mol Genet. 2005;14:103-11 pubmed
    Mutations in genes coding for cadherin 23 and protocadherin 15 cause deafness in both mice and humans...
  29. Nakajima D, Nakayama M, Kikuno R, Hirosawa M, Nagase T, Ohara O. Identification of three novel non-classical cadherin genes through comprehensive analysis of large cDNAs. Brain Res Mol Brain Res. 2001;94:85-95 pubmed