title: Slow-progressing photoreceptor cell degeneration in night blindness c mutant zebrafish.
abstract: We describe here the morphological and functional alterations of the retina of mutant zebrafish, night blindness c ( nbc ). The nbc mutant was isolated from the F1 generation of N -ethyl- N -nitrosourea mutagenized founders. Visual sensitivity of wildtype and heterozygous ( nbc (+/-)) mutant fish was determined using a behavioral assay based on visually mediated escape responses. Histology, immunocytochemistry, and electroretinography were used to study structural and functional changes of the outer retina. The behavioral visual response of nbc (+/-) mutants started to deteriorate at 12 months of age. Considerable variations existed between the extents of retinal degeneration of individual fish. In the most severe cases, both rod and cone outer segments were degenerated. In moderate cases, only rod outer segments were affected. Yet in other cases, no degeneration was detected. The retina of homozygous ( nbc (-/-)) larvae had a normal appearance. However, they develop abnormally and died before 9 days post fertilization. In conclusion, nbc causes late-onset and progressive dominant retinal degeneration of both rod and cone photoreceptor cells. However, nbc is not a retina-specific gene, as the homozygous fish displayed extra-retinal defects.
authors.affiliation: Department of Physiology, University of Kentucky College of Medicine, Lexington, KY 40536, USA.
authors.forename: Hans
authors.initials: H
authors.lastname: Maaswinkel
authors.forename: Jason Q
authors.initials: JQ
authors.lastname: Ren
authors.forename: Lei
authors.initials: L
authors.lastname: Li
mesh_terms: D000375:Aging / Q000235:genetics / Q000473:pathology; D000818:Animals; D002455:Cell Division / Q000235:genetics; D015350:Contrast Sensitivity / Q000235:genetics; D004195:Disease Models, Animal; D018450:Disease Progression; D005799:Genes, Dominant; D005804:Genes, Lethal / Q000235:genetics; D006579:Heterozygote; D006720:Homozygote; D007814:Larva / Q000235:genetics / Q000254:growth & development / Q000378:metabolism; D008854:Microscopy, Electron; D009154:Mutation / Q000235:genetics; D009755:Night Blindness / Q000235:genetics / Q000473:pathology* / Q000503:physiopathology; D019683:Penetrance; D020419:Photoreceptor Cells, Vertebrate / Q000473:pathology* / Q000648:ultrastructure; D012160:Retina / Q000378:metabolism / Q000473:pathology*; D017949:Retinal Cone Photoreceptor Cells / Q000473:pathology / Q000648:ultrastructure; D012162:Retinal Degeneration / Q000235:genetics / Q000473:pathology* / Q000503:physiopathology; D017948:Retinal Rod Photoreceptor Cells / Q000473:pathology / Q000648:ultrastructure; D015027:Zebrafish / Q000002:abnormalities / Q000235:genetics*