The deaf jerker mouse has a mutation in the gene encoding the espin actin-bundling proteins of hair cell stereocilia and lacks espins

Cell. 2000 Aug 4;102(3):377-85. doi: 10.1016/s0092-8674(00)00042-8.

Abstract

The espins are actin-bundling proteins of brush border microvilli and Sertoli cell-spermatid junctions. We have determined that espins are also present in hair cell stereocilia and have uncovered a connection between the espin gene and jerker, a recessive mutation that causes hair cell degeneration, deafness, and vestibular dysfunction. The espin gene maps to the same region of mouse chromosome 4 as jerker. The tissues of jerker mice do not accumulate espin proteins but contain normal levels of espin mRNAs. The espin gene of jerker mice has a frameshift mutation that affects the espin C-terminal actin-bundling module. These data suggest that jerker mice are, in effect, espin null and that the jerker phenotype results from a mutation in the espin gene.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Chromosome Mapping
  • Cilia / chemistry*
  • Cilia / ultrastructure
  • Cochlea / chemistry
  • Cochlea / ultrastructure
  • Deafness / genetics*
  • Frameshift Mutation*
  • Hair Cells, Auditory / chemistry*
  • Hair Cells, Auditory / ultrastructure
  • Homozygote
  • Kidney / chemistry
  • Male
  • Mice
  • Mice, Mutant Strains
  • Microfilament Proteins / genetics*
  • Microfilament Proteins / isolation & purification*
  • Molecular Sequence Data
  • Testis / chemistry
  • Vestibule, Labyrinth / chemistry
  • Vestibule, Labyrinth / ultrastructure

Substances

  • Microfilament Proteins
  • espin protein, mouse