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