Literature search services are currently unavailable. During our hosting provider's UPS upgrade we experienced a hardware failure and are currently working to resolve the issue.

Preparing your results

Our searching services are busy right now. Your search will reload in five seconds.

Forgot Password

If you have forgotten your password you can enter your email here and get a temporary password sent to your email.

Targeted disruption of mouse Pds provides insight about the inner-ear defects encountered in Pendred syndrome.

Following the positional cloning of PDS, the gene mutated in the deafness/goitre disorder Pendred syndrome (PS), numerous studies have focused on defining the role of PDS in deafness and PS as well as elucidating the function of the PDS-encoded protein (pendrin). To facilitate these efforts and to provide a system for more detailed study of the inner-ear defects that occur in the absence of pendrin, we have generated a Pds-knockout mouse. Pds(-/-) mice are completely deaf and also display signs of vestibular dysfunction. The inner ears of these mice appear to develop normally until embryonic day 15, after which time severe endolymphatic dilatation occurs, reminiscent of that seen radiologically in deaf individuals with PDS mutations. Additionally, in the second postnatal week, severe degeneration of sensory cells and malformation of otoconia and otoconial membranes occur, as revealed by scanning electron and fluorescence confocal microscopy. The ultrastructural defects seen in the Pds(-/-) mice provide important clues about the mechanisms responsible for the inner-ear pathology associated with PDS mutations.

Pubmed ID: 11152663


  • Everett LA
  • Belyantseva IA
  • Noben-Trauth K
  • Cantos R
  • Chen A
  • Thakkar SI
  • Hoogstraten-Miller SL
  • Kachar B
  • Wu DK
  • Green ED


Human molecular genetics

Publication Data

January 15, 2001

Associated Grants


Mesh Terms

  • Animals
  • Carrier Proteins
  • Ear, Inner
  • Goiter
  • Hair Cells, Auditory
  • Hearing Loss, Sensorineural
  • Membrane Transport Proteins
  • Mice
  • Mice, Knockout
  • Mice, Neurologic Mutants
  • Microscopy, Electron, Scanning
  • Syndrome
  • Thyroid Gland
  • Vestibular Diseases
  • Vestibule, Labyrinth