Cdh23

Summary

Gene Symbol: Cdh23
Description: cadherin 23 (otocadherin)
Alias: 4930542A03Rik, USH1D, ahl, ahl1, bob, bus, mdfw, nmf112, nmf181, nmf252, sals, cadherin-23, age related hearing loss 1, bobby, bustling, modifier of deaf waddler, otocadherin, waltzer
Species: mouse
Products:     Cdh23

Top Publications

  1. Bryda E, Ling H, Flaherty L. A high-resolution genetic map around waltzer on mouse chromosome 10 and identification of a new allele of waltzer. Mamm Genome. 1997;8:1-4 pubmed
    ..On the basis of allelism tests and linkage analyses, this mutation appears to represent a new allele of waltzer (v) that maps to mouse Chromosome (Chr) 10. We have designated this new allele, Albany waltzer (vAlb)...
  2. Bork J, Peters L, Bernstein S, Ahmed Z, Ness S, Polomeno R, et al. Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23. Am J Hum Genet. 2001;68:26-37 pubmed
    ..55 cM apart. Eighteen candidate genes in the region were sequenced. Mutations in a novel cadherin-like gene, CDH23, were found both in families with DFNB12 and in families with USH1D...
  3. 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. ..
  4. Reiners J, Märker T, Jürgens K, Reidel B, Wolfrum U. Photoreceptor expression of the Usher syndrome type 1 protein protocadherin 15 (USH1F) and its interaction with the scaffold protein harmonin (USH1C). Mol Vis. 2005;11:347-55 pubmed
    ..Recent studies indicated that three USH1 proteins, namely myosin VIIa (USH1B), SANS (USH1G), and cadherin 23 (USH1D) interact with the USH1C gene product harmonin...
  5. Elledge H, Kazmierczak P, Clark P, Joseph J, Kolatkar A, Kuhn P, et al. Structure of the N terminus of cadherin 23 reveals a new adhesion mechanism for a subset of cadherin superfamily members. Proc Natl Acad Sci U S A. 2010;107:10708-12 pubmed publisher
    ..Here, we have determined the structure of the EC1-EC2 domains of cadherin 23 (CDH23), which binds to protocadherin 15 (PCDH15) to form tip links of mechanosensory hair cells...
  6. Yonezawa S, Yoshizaki N, Kageyama T, Takahashi T, Sano M, Tokita Y, et al. Fates of Cdh23/CDH23 with mutations affecting the cytoplasmic region. Hum Mutat. 2006;27:88-97 pubmed
    BUS/Idr mice carrying a mutant waltzer allele (vbus) are characterized by splayed hair bundles in inner ear sensory cells, providing a mouse homolog of USH1D/DFNB12...
  7. El Amraoui A, Petit C. Usher I syndrome: unravelling the mechanisms that underlie the cohesion of the growing hair bundle in inner ear sensory cells. J Cell Sci. 2005;118:4593-603 pubmed
    Defects in myosin VIIa, the PDZ-domain-containing protein harmonin, cadherin 23 and protocadherin 15 (two cadherins with large extracellular regions), and the putative scaffolding protein Sans underlie five genetic forms of Usher ..
  8. Johnson K, Zheng Q, Noben Trauth K. Strain background effects and genetic modifiers of hearing in mice. Brain Res. 2006;1091:79-88 pubmed
    ..are known to contribute to AHL in mouse strains; one locus (ahl) has been identified as a variant of the cadherin 23 gene (Cdh23(753A/G))...
  9. Michalski N, Michel V, Bahloul A, Lefevre G, Barral J, Yagi H, et al. Molecular characterization of the ankle-link complex in cochlear hair cells and its role in the hair bundle functioning. J Neurosci. 2007;27:6478-88 pubmed
    ..The premature disappearance of these cadherin isoforms in the Vlgr1-/- mutant argues in favor of a signaling function of the ankle links in hair bundle differentiation. ..

More Information

Publications69

  1. Siemens J, Lillo C, Dumont R, Reynolds A, Williams D, Gillespie P, et al. Cadherin 23 is a component of the tip link in hair-cell stereocilia. Nature. 2004;428:950-5 pubmed
    ..One molecule that might participate in mechanoelectrical transduction is cadherin 23 (CDH23), as mutations in its gene cause deafness and age-related hearing loss...
  2. Zheng Q, Ding D, Yu H, Salvi R, Johnson K. A locus on distal chromosome 10 (ahl4) affecting age-related hearing loss in A/J mice. Neurobiol Aging. 2009;30:1693-705 pubmed publisher
    The ahl locus, shown to be a strain-specific Cdh23 dimorphism, contributes to age-related hearing loss in many inbred mouse strains...
  3. Ahmed Z, Kjellstrom S, Haywood Watson R, Bush R, Hampton L, Battey J, et al. Double homozygous waltzer and Ames waltzer mice provide no evidence of retinal degeneration. Mol Vis. 2008;14:2227-36 pubmed
    To determine whether cadherin 23 and protocadherin 15 can substitute for one another in the maintenance of the retina and other tissues in the mouse. Does homozygosity for both v and av mutant alleles (i.e...
  4. 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...
  5. Han F, Yu H, Tian C, Chen H, Benedict Alderfer C, Zheng Y, et al. A new mouse mutant of the Cdh23 gene with early-onset hearing loss facilitates evaluation of otoprotection drugs. Pharmacogenomics J. 2012;12:30-44 pubmed publisher
    We report a novel mutation (erlong, erl) of the cadherin 23 (Cdh23) gene in a mouse model for DFNB12 characterized by progressive hearing loss beginning from postnatal day 27 (P27)...
  6. Liu S, Li S, Zhu H, Cheng S, Zheng Q. A mutation in the cdh23 gene causes age-related hearing loss in Cdh23(nmf308/nmf308) mice. Gene. 2012;499:309-17 pubmed publisher
    b>Cadherin 23 (CDH23) is an important constituent of the hair cell tip link in the organ of Corti. Mutations in cdh23 are associated with age-related hearing loss (AHL)...
  7. Schwander M, Xiong W, Tokita J, Lelli A, Elledge H, Kazmierczak P, et al. A mouse model for nonsyndromic deafness (DFNB12) links hearing loss to defects in tip links of mechanosensory hair cells. Proc Natl Acad Sci U S A. 2009;106:5252-7 pubmed publisher
    ..We provide here an explanation for the phenotypic variability associated with mutations in the cadherin 23 gene (CDH23)...
  8. Lagziel A, Overlack N, Bernstein S, Morell R, Wolfrum U, Friedman T. Expression of cadherin 23 isoforms is not conserved: implications for a mouse model of Usher syndrome type 1D. Mol Vis. 2009;15:1843-57 pubmed
    We compared cadherin 23 (Cdh23) mRNA and protein variants in the inner ear and retina of wild-type and mutant mice and primates to better understand the pleiotropic effects of Cdh23 mutations, and specifically to understand the absence ..
  9. Di Palma F, Pellegrino R, Noben Trauth K. Genomic structure, alternative splice forms and normal and mutant alleles of cadherin 23 (Cdh23). Gene. 2001;281:31-41 pubmed
    ..We recently showed that cadherins also play important roles in the inner ear; mutations in cadherin 23 (Cdh23) disrupt stereocilia organization on hair cells leading to deafness and vestibular dysfunction in ..
  10. Johnson K, Longo Guess C, Gagnon L, Yu H, Zheng Q. A locus on distal chromosome 11 (ahl8) and its interaction with Cdh23 ahl underlie the early onset, age-related hearing loss of DBA/2J mice. Genomics. 2008;92:219-25 pubmed publisher
    ..Analysis of 214 mice from a backcross of (B6.CAST-Cdh23 Ahl+ xDBA/2J) F1 hybrids to DBA/2J mice demonstrated a genetic interaction of Cdh23 with ahl8...
  11. Sotomayor M, Weihofen W, Gaudet R, Corey D. Structural determinants of cadherin-23 function in hearing and deafness. Neuron. 2010;66:85-100 pubmed publisher
    ..The structures define an uncharacterized cadherin family and, with simulations, suggest mechanisms underlying inherited deafness and how cadherin-23 may bind with itself and with protocadherin-15 to form the tip link. ..
  12. Johnson K, Zheng Q, Bykhovskaya Y, Spirina O, Fischel Ghodsian N. A nuclear-mitochondrial DNA interaction affecting hearing impairment in mice. Nat Genet. 2001;27:191-4 pubmed
    ..reciprocal backcrosses of three inbred mouse strains, A/J, NOD/LtJ and SKH2/J, with age-related hearing loss (AHL)...
  13. Mashimo T, Erven A, Spiden S, Guenet J, Steel K. Two quantitative trait loci affecting progressive hearing loss in 101/H mice. Mamm Genome. 2006;17:841-50 pubmed
    ..3. The map position of Phl2 near the well-known QTL of age-related hearing loss (Ahl) suggested the possibility of allelism, although the Ahl mutation itself did not segregate in these crosses...
  14. Lelli A, Kazmierczak P, Kawashima Y, Muller U, Holt J. Development and regeneration of sensory transduction in auditory hair cells requires functional interaction between cadherin-23 and protocadherin-15. J Neurosci. 2010;30:11259-69 pubmed publisher
    ..that tip links are formed by calcium-dependent interactions between the N-terminal domains of cadherin-23 (CDH23) and protocadherin-15 (PCDH15)...
  15. Reiners J, Nagel Wolfrum K, Jürgens K, Märker T, Wolfrum U. Molecular basis of human Usher syndrome: deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher disease. Exp Eye Res. 2006;83:97-119 pubmed
    ..known USH1 molecules: the molecular motor myosin VIIa (USH1B); the two cell-cell adhesion cadherin proteins, cadherin 23 (USH1D) and protocadherin 15, (USH1F) and the scaffold proteins, harmonin (USH1C) and SANS (USH1G)...
  16. Zheng Q, Scarborough J, Zheng Y, Yu H, Choi D, Gillespie P. Digenic inheritance of deafness caused by 8J allele of myosin-VIIA and mutations in other Usher I genes. Hum Mol Genet. 2012;21:2588-98 pubmed publisher
    ..We generated mice that were digenic heterozygotes for Myo7a(sh1-8J) and one of each Cdh23(v-2J), Ush1g(js) or Pcdh15(av-3J) alleles, or an Ush1c null allele...
  17. Kazmierczak P, Sakaguchi H, Tokita J, Wilson Kubalek E, Milligan R, Muller U, et al. Cadherin 23 and protocadherin 15 interact to form tip-link filaments in sensory hair cells. Nature. 2007;449:87-91 pubmed
    ..Immunohistochemical studies using rodent hair cells show that cadherin 23 (CDH23) and protocadherin 15 (PCDH15) localize to the upper and lower part of tip links, respectively...
  18. Alagramam K, Goodyear R, Geng R, Furness D, van Aken A, Marcotti W, et al. Mutations in protocadherin 15 and cadherin 23 affect tip links and mechanotransduction in mammalian sensory hair cells. PLoS ONE. 2011;6:e19183 pubmed publisher
    Immunocytochemical studies have shown that protocadherin-15 (PCDH15) and cadherin-23 (CDH23) are associated with tip links, structures thought to gate the mechanotransducer channels of hair cells in the sensory epithelia of the inner ear...
  19. Liu X, Bulgakov O, Darrow K, Pawlyk B, Adamian M, Liberman M, et al. Usherin is required for maintenance of retinal photoreceptors and normal development of cochlear hair cells. Proc Natl Acad Sci U S A. 2007;104:4413-8 pubmed
  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
    A novel mouse model for human nonsyndromic hearing loss, Waltzer niigata (v(ngt)), is found and subjected to positional cloning analysis. Genome-wide scan of 1648 backcross mice maps v(ngt) to the D10Mit258 locus near Waltzer (v)...
  21. Bolz H, von Brederlow B, Ramirez A, Bryda E, Kutsche K, Nothwang H, et al. Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D. Nat Genet. 2001;27:108-12 pubmed
    ..In an accompanying paper, it is shown that mutations in the mouse ortholog cause disorganization of inner ear stereocilia and deafness in the waltzer mouse.
  22. Zheng Q, Johnson K. Hearing loss associated with the modifier of deaf waddler (mdfw) locus corresponds with age-related hearing loss in 12 inbred strains of mice. Hear Res. 2001;154:45-53 pubmed
    The modifier of deaf waddler (mdfw) and age-related hearing loss (Ahl) loci were both discovered as inbred strain polymorphisms that affect hearing loss in mice. Both loci map to the same position on chromosome (Chr) 10...
  23. 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...
  24. 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
    ..A locus contributing to the hearing loss of B6 mice, named age-related hearing loss (ahl), was mapped to Chromosome 10. A homozygous, congenic strain of mice (B6...
  25. 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...
  26. Adato A, Michel V, Kikkawa Y, Reiners J, Alagramam K, Weil D, et al. Interactions in the network of Usher syndrome type 1 proteins. Hum Mol Genet. 2005;14:347-56 pubmed
    Defects in myosin VIIa, harmonin (a PDZ domain protein), cadherin 23, protocadherin 15 and sans (a putative scaffolding protein), underlie five forms of Usher syndrome type I (USH1)...
  27. 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
    A major gene responsible for age-related hearing loss (AHL) in C57BL/6J mice was mapped by analyses of a (C57BL/6J x CAST/Ei) x C57BL/6J backcross...
  28. Johnson K, Zheng Q, Erway L. A major gene affecting age-related hearing loss is common to at least ten inbred strains of mice. Genomics. 2000;70:171-80 pubmed
    ..This map position for Ahl is near the waltzer mutation (v) and the modifier of deaf waddler locus (mdfw), suggesting the possibility of allelism...
  29. 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...
  30. 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 ..
  31. 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...
  32. Rzadzinska A, Steel K. Presence of interstereocilial links in waltzer mutants suggests Cdh23 is not essential for tip link formation. Neuroscience. 2009;158:365-8 pubmed publisher
    ..However, we detect tip link-like links in mouse mutants with null alleles of Cdh23, suggesting the presence of other components that permit formation of a link between the tip of one stereocilium ..
  33. Manji S, Miller K, Williams L, Andreasen L, Siboe M, Rose E, et al. An ENU-induced mutation of Cdh23 causes congenital hearing loss, but no vestibular dysfunction, in mice. Am J Pathol. 2011;179:903-14 pubmed publisher
    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 ..
  34. Siemens J, Kazmierczak P, Reynolds A, Sticker M, Littlewood Evans A, Muller U. The Usher syndrome proteins cadherin 23 and harmonin form a complex by means of PDZ-domain interactions. Proc Natl Acad Sci U S A. 2002;99:14946-51 pubmed
    ..encode the unconventional myosin VIIa, the PDZ-domain protein harmonin, and the putative adhesion receptors cadherin 23 (CDH23) and protocadherin 15 (PCDH15). We show here that CDH23 and harmonin form a protein complex...
  35. 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...
  36. Bahloul A, Michel V, Hardelin J, Nouaille S, Hoos S, Houdusse A, et al. Cadherin-23, myosin VIIa and harmonin, encoded by Usher syndrome type I genes, form a ternary complex and interact with membrane phospholipids. Hum Mol Genet. 2010;19:3557-65 pubmed publisher
  37. 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
    Mutations at the waltzer (v) locus result in deafness and vestibular dysfunction due to degeneration of the neuroepithelium within the inner ear...
  38. Drayton M, Noben Trauth K. Mapping quantitative trait loci for hearing loss in Black Swiss mice. Hear Res. 2006;212:128-39 pubmed
    ..8, 38-44 cM). Ahl5 and ahl6 account for 61% and 32% of the variation in the backcross, respectively. Cadherin 23 (Cdh23) and protocadherin 15 (Pcdh15), mapping within the 95% confidence interval of ahl5, bear nucleotide ..
  39. 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...
  40. Xu Z, Peng A, Oshima K, Heller S. MAGI-1, a candidate stereociliary scaffolding protein, associates with the tip-link component cadherin 23. J Neurosci. 2008;28:11269-76 pubmed publisher
    ..connectors implicated in gating the mechanoelectrical transduction channels, is the transmembrane protein cadherin 23 (Cdh23), more specifically, the hair- cell-specific Cdh23(+68) splice variant...
  41. Sotomayor M, Weihofen W, Gaudet R, Corey D. Structure of a force-conveying cadherin bond essential for inner-ear mechanotransduction. Nature. 2012;492:128-32 pubmed publisher
    ..channels by tip links, fine filaments formed by two atypical cadherins known as protocadherin 15 and cadherin 23 (refs 4, 5)...
  42. Rzadzinska A, Derr A, Kachar B, Noben Trauth K. Sustained cadherin 23 expression in young and adult cochlea of normal and hearing-impaired mice. Hear Res. 2005;208:114-21 pubmed
    b>Cadherin 23 encodes a single-pass transmembrane protein with 27 extracellular cadherin-domains and localizes to stereocilia where it functions as an inter-stereocilia link...
  43. 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 ..
  44. Zallocchi M, Sisson J, Cosgrove D. Biochemical characterization of native Usher protein complexes from a vesicular subfraction of tracheal epithelial cells. Biochemistry. 2010;49:1236-47 pubmed publisher
    ..At least two complexes were evident after the first gradient: one formed by specific isoforms of CDH23, PCDH15, and VLGR-1 and a different one at the top of the gradient that included all of the Usher proteins and ..
  45. 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)...
  46. Perrin B, Sonnemann K, Ervasti J. ?-actin and ?-actin are each dispensable for auditory hair cell development but required for Stereocilia maintenance. PLoS Genet. 2010;6:e1001158 pubmed publisher
    ..These results demonstrate overlapping developmental roles but unique post-developmental functions for ?-actin and ?-actin in maintaining hair cell stereocilia. ..
  47. Longo Guess C, Gagnon L, Bergstrom D, Johnson K. A missense mutation in the conserved C2B domain of otoferlin causes deafness in a new mouse model of DFNB9. Hear Res. 2007;234:21-8 pubmed
  48. Geng R, Melki S, Chen D, Tian G, Furness D, Oshima Takago T, et al. The mechanosensory structure of the hair cell requires clarin-1, a protein encoded by Usher syndrome III causative gene. J Neurosci. 2012;32:9485-98 pubmed publisher
    ..Furthermore, the ear phenotype in the Clrn1(N48K) mouse suggests that it is a valuable model for ear disease in CLRN1(N48K), the most prevalent Usher syndrome III mutation in North America. ..
  49. Ohlemiller K, Gagnon P. Genetic dependence of cochlear cells and structures injured by noise. Hear Res. 2007;224:34-50 pubmed
    ..Examination of noise injury in B6 congenics carrying alternate alleles of genes encoding otocadherin (Cdh23), agouti protein, and tyrosinase (albinism) indicated that none of these loci can account for the strain ..
  50. Miyasaka Y, Shitara H, Suzuki S, Yoshimoto S, Seki Y, Ohshiba Y, et al. Heterozygous mutation of Ush1g/Sans in mice causes early-onset progressive hearing loss, which is recovered by reconstituting the strain-specific mutation in Cdh23. Hum Mol Genet. 2016;25:2045-2059 pubmed
    ..ePHL in Ush1gjs/+ mice was associated with an interval in chromosome 10 that contains the cadherin 23 gene (Cdh23), which is also responsible for human deafness...
  51. Manji S, Williams L, Miller K, Ooms L, Bahlo M, Mitchell C, et al. A mutation in synaptojanin 2 causes progressive hearing loss in the ENU-mutagenised mouse strain Mozart. PLoS ONE. 2011;6:e17607 pubmed publisher
    ..These results reveal Synj2 as a critical regulator of hair cell survival that is essential for hair cell maintenance and hearing function. ..
  52. Vasquez Lopez S, Weissenberger Y, Lohse M, Keating P, King A, Dahmen J. Thalamic input to auditory cortex is locally heterogeneous but globally tonotopic. elife. 2017;6: pubmed publisher
    ..Such locally varied thalamocortical projections may be useful in enabling rapid contextual modulation of cortical frequency representations. ..
  53. Lelli A, Asai Y, Forge A, Holt J, Géléoc G. Tonotopic gradient in the developmental acquisition of sensory transduction in outer hair cells of the mouse cochlea. J Neurophysiol. 2009;101:2961-73 pubmed publisher
    ..We found spatiotemporal expression patterns for mRNA that encodes cadherin 23, protocadherin 15, myosins 3a, 7a, 15a, and PMCA2 that preceded the acquisition of transduction...
  54. Karp N, Baker L, Gerdin A, Adams N, Ramirez Solis R, White J. Optimising experimental design for high-throughput phenotyping in mice: a case study. Mamm Genome. 2010;21:467-76 pubmed publisher
    ..Consequently, in confirmatory studies, a power analysis along with the 3Rs can provide justification to increase the number of mice used. ..
  55. Shin J, Gillespie P. Unraveling cadherin 23's role in development and mechanotransduction. Proc Natl Acad Sci U S A. 2009;106:4959-60 pubmed publisher
  56. Cosgrove D, Zallocchi M. Usher protein functions in hair cells and photoreceptors. Int J Biochem Cell Biol. 2014;46:80-9 pubmed publisher
    ..In mature hair cells, homodimers of the Usher cadherins, cadherin 23 and protocadherin 15, interact to form a structural fiber, the tip link, and the linkages that anchor the ..
  57. Nagtegaal A, Rainey R, van der Pluijm I, Brandt R, van der Horst G, Borst J, et al. Cockayne syndrome group B (Csb) and group a (Csa) deficiencies predispose to hearing loss and cochlear hair cell degeneration in mice. J Neurosci. 2015;35:4280-6 pubmed publisher
    ..Our data indicate that the hearing loss observed in CS patients is reproduced in mouse models of this disease. We hypothesize that accumulating DNA damage, secondary to the loss of TCR, contributes to susceptibility to hearing loss. ..
  58. Everett C, Glenister P, Taylor D, Lyon M, Kratochvilova Loester J, Favor J. Mapping of six dominant cataract genes in the mouse. Genomics. 1994;20:429-34 pubmed
    ..A third mutant, provisionally designated Npp, mapped to Chromosome 5, 1.3 +/- 0.9 cM from the locus of W, and thus probably has a homologue on human Chromosome 4. ..
  59. Vu A, Nadaraja G, Huth M, Luk L, Kim J, Chai R, et al. Integrity and regeneration of mechanotransduction machinery regulate aminoglycoside entry and sensory cell death. PLoS ONE. 2013;8:e54794 pubmed publisher
    ..In this study, we examined whether tip-link proteins, including Cadherin 23 (Cdh23), regulate AG entry into hair cells...
  60. Han F, Yu H, Zheng T, Ma X, Zhao X, Li P, et al. Otoprotective effects of erythropoietin on Cdh23erl/erl mice. Neuroscience. 2013;237:1-6 pubmed publisher
    The Cdh23(erl/erl) mice are a novel mouse model for DFNB12 and are characterized by progressive hearing loss...