Reverse genetics in the mouse and its application to the study of deafness

Ann N Y Acad Sci. 1991:630:80-92. doi: 10.1111/j.1749-6632.1991.tb19577.x.

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.

Publication types

  • Research Support, U.S. Gov't, Non-P.H.S.
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Animals
  • Chromosome Deletion*
  • Crosses, Genetic
  • DNA / genetics*
  • DNA / isolation & purification
  • Deafness / genetics*
  • Female
  • Genetic Complementation Test
  • Male
  • Mice / genetics
  • Mice, Neurologic Mutants / genetics*
  • Muridae / genetics
  • Mutagenesis

Substances

  • DNA