RT Journal Article
SR Electronic
T1 Vascular Defects and Sensorineural Deafness in a Mouse Model of Norrie Disease
JF The Journal of Neuroscience
JO J. Neurosci.
FD Society for Neuroscience
SP 4286
OP 4292
DO 10.1523/JNEUROSCI.22-11-04286.2002
VO 22
IS 11
A1 Heidi L. Rehm
A1 Duan-Sun Zhang
A1 M. Christian Brown
A1 Barbara Burgess
A1 Chris Halpin
A1 Wolfgang Berger
A1 Cynthia C. Morton
A1 David P. Corey
A1 Zheng-Yi Chen
YR 2002
UL http://www.jneurosci.org/content/22/11/4286.abstract
AB 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.