| First Author | Rinchik EM | Year | 1991 |
| Journal | Ann N Y Acad Sci | Volume | 630 |
| Pages | 80-92 | PubMed ID | 1952626 |
| Mgi Jnum | J:73419 | Mgi Id | MGI:2155239 |
| Doi | 10.1111/j.1749-6632.1991.tb19577.x | Citation | Rinchik EM, et al. (1991) Reverse genetics in the mouse and its application to the study of deafness. Ann N Y Acad Sci 630:80-92 |
| abstractText | Genetic variants of the laboratory mouse can serve as useful models for hereditary deafness syndromes in humans. Recessive mutations at the shaker-1 (sh-1) and whirler (wi) loci, in chromosomes 7 and 4, respectively, both result in circling behavior and a deafness syndrome. In sh-1 homozygotes this deafness is associated with neurophysiological abnormalities that may be accompanied by structural abnormalities of the inner ear. Radiation-induced deletion mutations are being used in a strategy of reverse genetics to identify the genes defined by these mutations. Genetic analyses have refined the position of sh-1 to a chromosomal interval between break points of deletions involving the closely linked albino (c) locus. A cDNA encoding olfactory marker protein (OMP) and the anonymous locus D7OR1 have also been mapped to this interval. These clones contribute to the physical map of the sh-1 region and could be important for accessing the sh-1 gene itself. Similarly, we have identified a radiation-induced deletion of the brown (b) locus that covers the wi locus and two that do not. Thus, the wi locus has been located within a chromosome 4 interval defined by structural rearrangements, which should likewise aid in identifying closely linked molecular clones. |
