PUBLICATION
A dominant form of inherited retinal degeneration caused by a non-photoreceptor cell-specific mutation
- Authors
- Li, L. and Dowling, J.E.
- ID
- ZDB-PUB-980210-48
- Date
- 1997
- Source
- Proceedings of the National Academy of Sciences of the United States of America 94: 11645-11650 (Journal)
- Registered Authors
- Dowling, John E., Li, Lei
- Keywords
- none
- MeSH Terms
-
- Adaptation, Ocular
- Aging
- Animals
- Embryo, Nonmammalian
- Escape Reaction
- Fish Diseases/genetics*
- Genes, Dominant
- Genetic Carrier Screening
- Mutation*
- Night Blindness/genetics
- Night Blindness/physiopathology
- Night Blindness/veterinary
- Retina/growth & development
- Retina/pathology
- Retina/physiopathology*
- Retinal Degeneration/genetics*
- Retinal Degeneration/physiopathology
- Retinal Degeneration/veterinary*
- Sensory Thresholds
- Visual Acuity
- Zebrafish
- PubMed
- 9326664 Full text @ Proc. Natl. Acad. Sci. USA
Citation
Li, L. and Dowling, J.E. (1997) A dominant form of inherited retinal degeneration caused by a non-photoreceptor cell-specific mutation. Proceedings of the National Academy of Sciences of the United States of America. 94:11645-11650.
Abstract
We have isolated a dominant mutation, night blindness a (nba), that causes a slow retinal degeneration in zebrafish. Heterozygous nba fish have normal vision through 2-3 months of age but subsequently become night blind. By 9.5 months of age, visual sensitivity of affected fish may be decreased more than two log units, or 100-fold, as measured behaviorally. Electroretinographic (ERG) thresholds of mutant fish are also raised significantly, and the ERG b-wave shows a delayed implicit time. These defects are due primarily to a late-onset photoreceptor cell degeneration involving initially the rods but eventually the cones as well. Homozygous nba fish display an early-onset neuronal degeneration throughout the retina and elsewhere in the central nervous system. As a result, animals develop with small eyes and die by 4-5 days postfertilization (pf). These latter data indicate that the mutation affecting nba fish is not in a photoreceptor cell-specific gene.
Genes / Markers
Probes
Expression
Phenotype
Mutations / Transgenics
Human Disease / Model
Sequence Targeting Reagents
Fish
Orthology
Engineered Foreign Genes
Mapping