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Norman L. Hawes, Bo Chang, Gregory S. Hageman, Steven Nusinowitz, Patsy M. Nishina, Bobbie S. Schneider, Richard S. Smith, Thomas H. Roderick, Muriel T. Davisson, John R. Heckenlively; Retinal Degeneration 6 (rd6): A New Mouse Model for Human Retinitis Punctata Albescens. Invest. Ophthalmol. Vis. Sci. 2000;41(10):3149-3157.
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purpose. To characterize the genetics and phenotype of a new mouse mutant with
retinal degeneration, rd6, that is associated with
extensive, scattered, small white retinal dots seen
methods. The phenotype was characterized using ophthalmoscopy, fundus
photography, electroretinography, light microscopy,
immunocytochemistry, and electron microscopy. Genetic characterization
and linkage analysis studies were performed using standard methods.
results. The inheritance pattern of rd6 is autosomal recessive.
Linkage analysis mapped rd6 to mouse Chromosome 9
approximately 24 cM from the centromere, suggesting that the human
homolog may be on chromosome 11q23. Ophthalmoscopic examination of mice
homozygous for rd6 revealed discrete subretinal spots
oriented in a regular pattern across the retina. The retinal spots
appeared by 8 to 10 weeks of age and persisted through advanced stages
of retinal degeneration. Histologic examination revealed large cells in
the subretinal space, typically juxtaposed to the retinal pigment
epithelium. The white dots seen on fundus examination corresponded both
in distribution and size to these large cells. By 3 months of age, the
cells were filled with membranous profiles, lipofuscin-like material,
and pigment. These cells reacted strongly with an antibody directed
against a mouse macrophage-associated antigen. Photoreceptor cells
progressively degenerated with age, and an abnormal electroretinogram
was initially detected between 1 and 2 months of age.
conclusions. The fundi of mice homozygous for rd6 exhibit phenotypic
similarities to the human flecked retinal disorder retinitis punctata
albescens. Thus, rd6/rd6 mice may be a model for
understanding the etiology of this or similar disorders. The
relationship between the aberrant subretinal cells and the concomitant
photoreceptor degeneration remains to be
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