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

Lili Zheng, Gabriela Sekerková, Kelly Vranich, Lewis G. Tilney, Enrico Mugnaini, James R. Bartles*

*Corresponding author for this work

Research output: Contribution to journalArticle

207 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)377-385
Number of pages9
JournalCell
Volume102
Issue number3
DOIs
StatePublished - Aug 4 2000

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)

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