Mutations in Hydin impair ciliary motility in mice

J Cell Biol. 2008 Feb 11;180(3):633-43. doi: 10.1083/jcb.200710162. Epub 2008 Feb 4.


Chlamydomonas reinhardtii hydin is a central pair protein required for flagellar motility, and mice with Hydin defects develop lethal hydrocephalus. To determine if defects in Hydin cause hydrocephalus through a mechanism involving cilia, we compared the morphology, ultrastructure, and activity of cilia in wild-type and hydin mutant mice strains. The length and density of cilia in the brains of mutant animals is normal. The ciliary axoneme is normal with respect to the 9 + 2 microtubules, dynein arms, and radial spokes but one of the two central microtubules lacks a specific projection. The hydin mutant cilia are unable to bend normally, ciliary beat frequency is reduced, and the cilia tend to stall. As a result, these cilia are incapable of generating fluid flow. Similar defects are observed for cilia in trachea. We conclude that hydrocephalus in hydin mutants is caused by a central pair defect impairing ciliary motility and fluid transport in the brain.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Cell Movement / genetics*
  • Cerebral Ventricles / metabolism*
  • Cerebral Ventricles / physiopathology
  • Cerebral Ventricles / ultrastructure
  • Cerebrospinal Fluid / metabolism
  • Cilia / metabolism*
  • Cilia / ultrastructure
  • Ependyma / abnormalities
  • Ependyma / metabolism*
  • Ependyma / ultrastructure
  • Fluorescent Antibody Technique
  • Gene Expression Regulation, Developmental / genetics
  • Genetic Predisposition to Disease / genetics
  • Hydrocephalus / genetics
  • Hydrocephalus / metabolism
  • Hydrocephalus / physiopathology
  • Mice
  • Mice, Knockout
  • Mice, Transgenic
  • Microfilament Proteins / genetics
  • Microfilament Proteins / metabolism*
  • Microscopy, Electron, Transmission
  • Mutation / genetics
  • Respiratory Mucosa / metabolism
  • Respiratory Mucosa / physiopathology
  • Respiratory Mucosa / ultrastructure
  • Trachea / metabolism
  • Trachea / physiopathology
  • Trachea / ultrastructure


  • Hydin protein, mouse
  • Microfilament Proteins