| First Author | Zheng L | Year | 2000 |
| Journal | Cell | Volume | 102 |
| Issue | 3 | Pages | 377-85 |
| PubMed ID | 10975527 | Mgi Jnum | J:53411 |
| Mgi Id | MGI:1332515 | Doi | 10.1016/s0092-8674(00)00042-8 |
| Citation | Zheng L, et al. (2000) 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):377-85 |
| abstractText | 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. |
