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The Journal of Neuroscience, June 1, 2002, 22(11):4286-4292

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

Heidi L. Rehm^{1, 2, 3, *}, Duan-Sun Zhang^{1, 3, *}, M. Christian Brown^{2, 4}, Barbara Burgess⁴, Chris Halpin^{2, 4}, Wolfgang Berger⁵, Cynthia C. Morton^{2, 6}, David P. Corey^{1, 2, 3}, and Zheng-Yi Chen^{2, 7}

¹ Neurosurgery Service, Massachusetts General Hospital, Boston, Massachusetts 02114, ² Harvard Medical School, Boston, Massachusetts 02115, ³ Howard Hughes Medical Institute, Boston, Massachusetts 02114, ⁴ Department of Otology and Laryngology, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts 02114, ⁵ Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany, ⁶ Departments of Obstetrics, Gynecology, and Reproductive Biology and Pathology, Brigham and Women's Hospital, Boston, Massachusetts 02115, and ⁷ Neurology Service, Massachusetts General Hospital, Boston, Massachusetts 02114

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.

Key words: Norrie disease; mouse model; deafness; blindness; retina; cochlea; stria vascularis; marginal cells; vascular; angiogenesis; norrin

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^* H.L.R. and D.-S.Z. contributed equally to this work.

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Copyright © 2002 Society for Neuroscience  0270-6474/02/22114286-07$05.00/0

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