A 40 Kb Genomic Deletion Including tmie (Transmembrane Inner Ear Protein) Gene Causes Deafness, Circling and Head Tossing in Circling Mice

  • Kyoung In Cho (Catholic Research Institutes of Medical Science, Catholic Medical College, Department of Medical Genetics and Experimental Animal Center, College of Medicine, Hallym University) ;
  • Jeong Woong Lee (Catholic Research Institutes of Medical Science, Catholic Medical Colleg) ;
  • Eun Ju Lee (Catholic Research Institutes of Medical Science, Catholic Medical Colleg) ;
  • Sol Ha Hwang (Catholic Research Institutes of Medical Science, Catholic Medical College, Department of Medical Genetics and Experimental Animal Center, College of Medicine, Hallym University) ;
  • Myoung Ok Kim (Catholic Research Institutes of Medical Science, Catholic Medical Colleg) ;
  • Sung Hyun Kim (Catholic Research Institutes of Medical Science, Catholic Medical Colleg) ;
  • Jun Hong Park (Catholic Research Institutes of Medical Science, Catholic Medical Colleg) ;
  • Boo Kyoung Jung (Catholic Research Institutes of Medical Science, Catholic Medical Colleg) ;
  • Hee Chul Kim (Catholic Research Institutes of Medical Science, Catholic Medical College)
  • Published : 2004.06.01

Abstract

Circling (cir) mouse is a spontaneous mutant in the inner ear that was first reported in Korea. The mutation is transmitted by an autosomal recessive gene with 100 %- penetrance.. Homozygous mice are characterized by head-tossing, bi-directional circling behavior and deafness. Histologicalexamination of the inner ear reveals abnormalities of the region around the organ of Corti, spiral ganglion neurons, and outer hair cells. (omitted)

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