Vascular Defects and Sensorineural Deafness in a Mouse Model of Norrie Disease
- 1 June 2002
- journal article
- Published by Society for Neuroscience in Journal of Neuroscience
- Vol. 22 (11) , 4286-4292
- https://doi.org/10.1523/jneurosci.22-11-04286.2002
Abstract
Norrie disease is an X-linked recessive syndrome of blindness, deafness, and mental retardation. A knock-out mouse model with anNdp gene disruption was studied. We examined the hearing phenotype, including audiological, histological, and vascular evaluations. As is seen in humans, the mice had progressive hearing loss leading to profound deafness. The primary lesion was localized to the stria vascularis, which houses the main vasculature of the cochlea. Fluorescent dyes showed an abnormal vasculature in this region and eventual loss of two-thirds of the vessels. We propose that one of the principal functions of norrin in the ear is to regulate the interaction of the cochlea with its vasculature.Keywords
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