The world's first wiki where authorship really matters (Nature Genetics, 2008). Due credit and reputation for authors. Imagine a global collaborative knowledge base for original thoughts. Search thousands of articles and collaborate with scientists around the globe.

wikigene or wiki gene protein drug chemical gene disease author authorship tracking collaborative publishing evolutionary knowledge reputation system wiki2.0 global collaboration genes proteins drugs chemicals diseases compound
Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)



Gene Review

Pcdh15  -  protocadherin 15

Mus musculus

Synonyms: BB078305, ENSMUSG00000046980, Gm9815, Protocadherin-15, Ush1f, ...
Welcome! If you are familiar with the subject of this article, you can contribute to this open access knowledge base by deleting incorrect information, restructuring or completely rewriting any text. Read more.

Disease relevance of Pcdh15


High impact information on Pcdh15

  • Cochlear hair cells in the av mutants show abnormal stereocilia by 10 days after birth (P10) [1].
  • Ames waltzer (av) is a recessive mutation found in mice that causes deafness and a balance disorder associated with the degeneration of inner ear neuroepithelia [1].
  • Here we report that the gene that harbours the av mutation encodes a novel protocadherin [1].
  • This region of mouse chromosome 10 contains Pcdh15, encoding a protocadherin gene that is mutated in ames waltzer and causes deafness and vestibular dysfunction [4].
  • We reveal that harmonin also binds to protocadherin 15 [5].

Biological context of Pcdh15


Anatomical context of Pcdh15

  • Expression of Pcdh15 in the inner ear, nervous system and various epithelia of the developing embryo [2].
  • Mutation in the protocadherin 15 (Pcdh15) gene causes hair cell dysfunction and is associated with abnormal stereocilia development [10].
  • These findings indicate that the mutation in Pcdh15 results in either a functional abnormality in the vestibular receptor organs or that the defects are limited to the vestibular nerve [3].
  • To determine the earliest changes and help identify the primary causes of deafness in av, we performed morphological studies in 15-16 day old mutants, just prior to the maturation of the cochlea [11].
  • Colocalization of Pcdh15 with harmonin was found at the base of the photoreceptor outer segment, where newly synthesized disk membranes are present [12].

Associations of Pcdh15 with chemical compounds

  • Sequencing mutant-derived brain Pcdh15 cDNAs identified the insertion of a cytosine residue at nucleotide position c2099 (2099insC), which results in a frame-shift and premature stop codon [7].
  • We have characterized the first allele (Pcdh15(av-nmf19)) of Ames waltzer (av) obtained by N-ethyl-N-nitrosourea (ENU) mutagenesis [10].

Other interactions of Pcdh15

  • The mutant locus was mapped to a region on mouse chromosome 10 close to three spontaneous recessive mutations causing deafness: Ames waltzer (av), Waltzer (v), and Jackson circler (jc) [13].

Analytical, diagnostic and therapeutic context of Pcdh15

  • The neural retina was dissected from normal pigmented mice at postnatal day (P)0, P5, P7, P20, P40, and P70, and the presence of Pcdh15 was determined by RT-PCR [14].
  • Here we describe where the Pcdh15 gene is expressed at specific times during mouse development using RNA in situ hybridization [2].
  • Dye uptake was found to be dramatically reduced in Pcdh15 mutants compared to control littermates, suggesting that the mutation affects hair cell function, although structural abnormalities consistent with significant vestibular dysfunction are not apparent by light and scanning electron microscopy in the vestibular neuroepithelia of young animals [3].


  1. The mouse Ames waltzer hearing-loss mutant is caused by mutation of Pcdh15, a novel protocadherin gene. Alagramam, K.N., Murcia, C.L., Kwon, H.Y., Pawlowski, K.S., Wright, C.G., Woychik, R.P. Nat. Genet. (2001) [Pubmed]
  2. Expression of Pcdh15 in the inner ear, nervous system and various epithelia of the developing embryo. Murcia, C.L., Woychik, R.P. Mech. Dev. (2001) [Pubmed]
  3. Characterization of vestibular dysfunction in the mouse model for Usher syndrome 1F. Alagramam, K.N., Stahl, J.S., Jones, S.M., Pawlowski, K.S., Wright, C.G. J. Assoc. Res. Otolaryngol. (2005) [Pubmed]
  4. Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F. Ahmed, Z.M., Riazuddin, S., Bernstein, S.L., Ahmed, Z., Khan, S., Griffith, A.J., Morell, R.J., Friedman, T.B., Riazuddin, S., Wilcox, E.R. Am. J. Hum. Genet. (2001) [Pubmed]
  5. Interactions in the network of Usher syndrome type 1 proteins. Adato, A., Michel, V., Kikkawa, Y., Reiners, J., Alagramam, K.N., Weil, D., Yonekawa, H., Wolfrum, U., El-Amraoui, A., Petit, C. Hum. Mol. Genet. (2005) [Pubmed]
  6. Mapping quantitative trait loci for hearing loss in Black Swiss mice. Drayton, M., Noben-Trauth, K. Hear. Res. (2006) [Pubmed]
  7. A new spontaneous mutation in the mouse Ames waltzer gene, Pcdh15. Hampton, L.L., Wright, C.G., Alagramam, K.N., Battey, J.F., Noben-Trauth, K. Hear. Res. (2003) [Pubmed]
  8. Fine genetic and comparative mapping of the deafness mutation Ames waltzer on mouse chromosome 10. Zobeley, E., Sufalko, D.K., Adkins, S., Burmeister, M. Genomics (1998) [Pubmed]
  9. Ames Waltzer deaf mice have reduced electroretinogram amplitudes and complex alternative splicing of Pcdh15 transcripts. Haywood-Watson, R.J., Ahmed, Z.M., Kjellstrom, S., Bush, R.A., Takada, Y., Hampton, L.L., Battey, J.F., Sieving, P.A., Friedman, T.B. Invest. Ophthalmol. Vis. Sci. (2006) [Pubmed]
  10. Characterization of a new allele of Ames waltzer generated by ENU mutagenesis. Washington, J.L., Pitts, D., Wright, C.G., Erway, L.C., Davis, R.R., Alagramam, K. Hear. Res. (2005) [Pubmed]
  11. Severe vestibular and auditory impairment in three alleles of Ames waltzer (av) mice. Raphael, Y., Kobayashi, K.N., Dootz, G.A., Beyer, L.A., Dolan, D.F., Burmeister, M. Hear. Res. (2001) [Pubmed]
  12. Photoreceptor expression of the Usher syndrome type 1 protein protocadherin 15 (USH1F) and its interaction with the scaffold protein harmonin (USH1C). Reiners, J., Märker, T., Jürgens, K., Reidel, B., Wolfrum, U. Mol. Vis. (2005) [Pubmed]
  13. Neuroepithelial defects of the inner ear in a new allele of the mouse mutation Ames waltzer. Alagramam, K.N., Zahorsky-Reeves, J., Wright, C.G., Pawlowski, K.S., Erway, L.C., Stubbs, L., Woychik, R.P. Hear. Res. (2000) [Pubmed]
  14. Assessment of retinal structure and function in Ames waltzer mice. Ball, S.L., Bardenstein, D., Alagramam, K.N. Invest. Ophthalmol. Vis. Sci. (2003) [Pubmed]
WikiGenes - Universities