title: Reverse genetics in the mouse and its application to the study of deafness.
abstract: 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.
authors.affiliation: Biology Division, Oak Ridge National Laboratory, Tennessee 37831-8077.
authors.forename: E M
authors.initials: EM
authors.lastname: Rinchik
authors.forename: D K
authors.initials: DK
authors.lastname: Johnson
authors.forename: F L
authors.initials: FL
authors.lastname: Margolis
authors.forename: I J
authors.initials: IJ
authors.lastname: Jackson
authors.forename: L B
authors.initials: LB
authors.lastname: Russell
authors.forename: D A
authors.initials: DA
authors.lastname: Carpenter
mesh_terms: D000818:Animals; D002872:Chromosome Deletion; D003433:Crosses, Genetic; D004247:DNA / Q000235:genetics* / Q000302:isolation & purification; D003638:Deafness / Q000235:genetics*; D005260:Female; D005816:Genetic Complementation Test; D008297:Male; D051379:Mice / Q000235:genetics; D008818:Mice, Neurologic Mutants / Q000235:genetics*; D009115:Muridae / Q000235:genetics; D016296:Mutagenesis
chemical_list: D004247:DNA