Genetics, Vol. 152, 1691-1699, August 1999, Copyright © 1999

A New Mouse Insertional Mutation That Causes Sensorineural Deafness and Vestibular Defects

K. N. Alagramama, H. Y. Kwonb, N. L. A. Cacheirob, L. Stubbsc, C. G. Wrightd, L. C. Erwaye, and R. P. Woychika
a Department of Pediatrics, Rainbow Babies and Children's Hospital, Case Western Reserve University, Cleveland, Ohio 44106,
b Life Sciences Division, Oak Ridge National Laboratory, Oak Ridge, Tennessee 37831-8080,
c Human Genome Center, Lawrence Livermore National Laboratory, Livermore, California 94550
d Department of Otorhinolaryngology, University of Texas Southwestern Medical Center, Dallas, Texas 75235-9035
e Department of Biological Sciences, University of Cincinnati, Cincinnati, Ohio 45221

Corresponding author: R. P. Woychik, Parke-Davis Laboratory for Molecular Genetics, 1501 Harbor Bay Pkwy., Alameda, CA 94502., rick.woychik{at}wl.com (E-mail)

Communicating editor: N. A. JENKINS

This article describes a new recessive insertional mutation in the transgenic line TgN2742Rpw that causes deafness and circling behavior in mice. Histologic analysis revealed virtually complete loss of the cochlear neuroepithelium (the organ of Corti) in adult mutant mice. In association with the neuroepithelial changes, there is a dramatic reduction of the cochlear nerve supply. Adult mutants also show morphological defects of the vestibular apparatus, including degeneration of the saccular neuroepithelium and occasional malformation of utricular otoconia. Audiometric evaluations demonstrated that the mice displaying the circling phenotype are completely deaf. Molecular analysis of this mutant line revealed that the transgenic insertion occurred without creating a large deletion of the host DNA sequences. The mutant locus was mapped to a region on mouse chromosome 10, where other spontaneous, recessive mutations causing deafness in mice have been mapped.




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