Vascular Defects and Sensorineural Deafness in a Mouse Model of Norrie Disease

Norrie disease is an X-linked recessive syndrome of blindness, deafness, and mental retardation. A knock-out mouse model with an Ndp gene disruption was studied. We examined the hearing phenotype, including audiological, histological, and vascular evaluations. As is seen in humans, the mice had prog...

Full description

Saved in:
Bibliographic Details
Published in:The Journal of neuroscience 2002-06, Vol.22 (11), p.4286-4292
Main Authors: Rehm, Heidi L, Zhang, Duan-Sun, Brown, M. Christian, Burgess, Barbara, Halpin, Chris, Berger, Wolfgang, Morton, Cynthia C, Corey, David P, Chen, Zheng-Yi
Format: Article
Language:English
Subjects:
Acoustic Stimulation
Adult
Animals
Audiometry, Pure-Tone
Auditory Threshold
Blindness - genetics
Blood Vessels - pathology
Cochlea - blood supply
Cochlea - pathology
Cochlea - physiopathology
Disease Models, Animal
Disease Progression
Evoked Potentials, Auditory, Brain Stem
Eye Proteins - genetics
Fluorescent Dyes
Genes, Recessive
Hearing Loss, Sensorineural - genetics
Hearing Loss, Sensorineural - pathology
Hearing Loss, Sensorineural - physiopathology
Humans
Intellectual Disability - genetics
Mice
Mice, Knockout
Nerve Tissue Proteins - deficiency
Nerve Tissue Proteins - genetics
Phenotype
Retina - pathology
Stria Vascularis - pathology
Syndrome
Vestibular Function Tests
X Chromosome - genetics
Citations: Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Norrie disease is an X-linked recessive syndrome of blindness, deafness, and mental retardation. A knock-out mouse model with an Ndp 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.
ISSN:0270-6474
1529-2401
1529-2401
DOI:10.1523/JNEUROSCI.22-11-04286.2002