PUBLICATION
Slow-progressing photoreceptor cell degeneration in night blindness c mutant zebrafish
- Authors
- Maaswinkel, H., Ren, J.Q., and Li, L.
- ID
- ZDB-PUB-040329-9
- Date
- 2003
- Source
- Journal of neurocytology 32(9): 1107-1116 (Journal)
- Registered Authors
- Li, Lei, Maaswinkel, Hans, Ren, Jason (Qianshen)
- Keywords
- none
- MeSH Terms
-
- Microscopy, Electron
- Mutation/genetics
- Aging/genetics
- Aging/pathology
- Photoreceptor Cells, Vertebrate/pathology*
- Photoreceptor Cells, Vertebrate/ultrastructure
- Genes, Lethal/genetics
- Homozygote
- Retinal Cone Photoreceptor Cells/pathology
- Retinal Cone Photoreceptor Cells/ultrastructure
- Larva/genetics
- Larva/growth & development
- Larva/metabolism
- Retinal Degeneration/genetics
- Retinal Degeneration/pathology*
- Retinal Degeneration/physiopathology
- Disease Progression
- Retinal Rod Photoreceptor Cells/pathology
- Retinal Rod Photoreceptor Cells/ultrastructure
- Zebrafish/abnormalities
- Zebrafish/genetics*
- Night Blindness/genetics
- Night Blindness/pathology*
- Night Blindness/physiopathology
- Cell Division/genetics
- Disease Models, Animal
- Animals
- Genes, Dominant
- Penetrance
- Retina/metabolism
- Retina/pathology*
- Heterozygote
- Contrast Sensitivity/genetics
- PubMed
- 15044842 Full text @ J. Neurocytol.
Citation
Maaswinkel, H., Ren, J.Q., and Li, L. (2003) Slow-progressing photoreceptor cell degeneration in night blindness c mutant zebrafish. Journal of neurocytology. 32(9):1107-1116.
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.
Genes / Markers
Expression
Phenotype
Mutations / Transgenics
Human Disease / Model
Sequence Targeting Reagents
Fish
Orthology
Engineered Foreign Genes
Mapping