| First Author | Probst FJ | Year | 1998 |
| Journal | Science | Volume | 280 |
| Issue | 5368 | Pages | 1444-7 |
| PubMed ID | 9603735 | Mgi Jnum | J:48001 |
| Mgi Id | MGI:1261406 | Doi | 10.1126/science.280.5368.1444 |
| Citation | Probst FJ, et al. (1998) Correction of deafness in shaker-2 mice by an unconventional myosin in a BAC transgene [see comments]. Science 280(5368):1444-7 |
| abstractText | The shaker-2 mouse mutation, the homolog of human DFNB3, causes deafness and circling behavior. A bacterial artificial chromosome (BAC) transgene from the shaker-2 critical region corrected the vestibular defects, deafness, and inner ear morphology of shaker-2 mice. An unconventional myosin gene, Myo15, was discovered by DNA sequencing of this BAG. Shaker-2 mice were found to have an amino acid substitution at a highly conserved position within the motor domain of this myosin, Auditory hair cells of shaker-2 mice have very short stereocilia and a long actin-containing protrusion extending from their basal end. This histopathology suggests that Myo15 is necessary for actin organization in the hair cells of the cochlea. |
