Ll. Zheng et al., The deaf jerker mouse has a mutation in the gene encoding the espin actin-bundling proteins of hair cell stereocilia and lacks espins, CELL, 102(3), 2000, pp. 377-385
The espins are actin-bundling proteins of brush border microvilli and Serto
li cell-spermatid junctions. We have determined that espins are also presen
t in hair cell stereocilia and have uncovered a connection between the espi
n gene and jerker, a recessive mutation that causes hair cell degeneration,
deafness, and vestibular dysfunction. The espin gene maps to the same regi
on of mouse chromosome 4 as jerker. The tissues of jerker mice do not accum
ulate espin proteins but contain normal levels of espin mRNAs. The espin ge
ne of jerker mice has a frameshift mutation that affects the espin C-termin
al actin-bundling module. These data suggest that jerker mice are, in effec
t, espin null and that the jerker phenotype results from a mutation in the
espin gene.