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Mouse models of norrie disease


Berger, W (2008). Mouse models of norrie disease. In: Chalupa, L M; Williams, R W. Eye, Retina, and Visual System of the Mouse. Cumberland: Harvard University Press, 527-537.

Abstract

Norrie disease is a severe X-linked recessive trait with the hallmark features of congenital blindness, deafness, and mental retardation. The disorder is caused by mutations in a gene encoding norrin, a small extracellular protein. To characterize the function of norrin and to study the pathophysiology of Norrie disease, a knockout mouse model was generated and examined. The results of these studies showed that abnormal retinal angiogenesis during development is one of the most prominent observations in mice lacking norrin. This causes severe retinal hypoxia, which leads to profound tissue damage. The disease phenotype was rescued by breeding knockout mice with transgenic animals with ectopic norrin expression in the lens. In addition, transgenic lenses induced proliferation of microvascular endothelial cells in coculture. These and other findings identified norrin as a key regulator of angiogenic processes in the retina. Most of the ocular symptoms in human patients may also be attributed to oxygen deficiency during retinal development, and the mouse lines significantly contributed to a better understanding of the primary events of this severe neurological disorder.

Norrie disease is a severe X-linked recessive trait with the hallmark features of congenital blindness, deafness, and mental retardation. The disorder is caused by mutations in a gene encoding norrin, a small extracellular protein. To characterize the function of norrin and to study the pathophysiology of Norrie disease, a knockout mouse model was generated and examined. The results of these studies showed that abnormal retinal angiogenesis during development is one of the most prominent observations in mice lacking norrin. This causes severe retinal hypoxia, which leads to profound tissue damage. The disease phenotype was rescued by breeding knockout mice with transgenic animals with ectopic norrin expression in the lens. In addition, transgenic lenses induced proliferation of microvascular endothelial cells in coculture. These and other findings identified norrin as a key regulator of angiogenic processes in the retina. Most of the ocular symptoms in human patients may also be attributed to oxygen deficiency during retinal development, and the mouse lines significantly contributed to a better understanding of the primary events of this severe neurological disorder.

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Additional indexing

Item Type:Book Section, not refereed, original work
Communities & Collections:04 Faculty of Medicine > Institute of Medical Molecular Genetics
Dewey Decimal Classification:570 Life sciences; biology
610 Medicine & health
Language:English
Date:August 2008
Deposited On:16 Mar 2009 09:26
Last Modified:05 Apr 2016 13:10
Publisher:Harvard University Press
ISBN:978-0-262-03381-7
Official URL:http://mitpress.mit.edu/catalog/item/default.asp?ttype=2&tid=11633
Related URLs:http://opac.nebis.ch/F/?local_base=NEBIS&con_lng=GER&func=find-b&find_code=SYS&request=005501520
Permanent URL: http://doi.org/10.5167/uzh-17752

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