A naturally occurring mouse model of X-linked congenital stationary night blindness

Invest Ophthalmol Vis Sci. 1998 Nov;39(12):2443-9.


Purpose: To describe a naturally occurring X-linked recessive mutation, no b-wave (nob), that compromises visual transmission between photoreceptors and second-order neurons in mice.

Methods: Affected mice were identified by recording the light-evoked response of the retina, the electroretinogram (ERG). To evaluate visual transmission, cortical potentials were recorded with a scalp electrode. The inheritance pattern for nob was defined by breeding nob animals with normal mice. Retinal histologic analysis was performed by light microscopy.

Results: Although the photoreceptor-mediated ERG component (a-wave) was normal in nob mice, the major response component reflecting postreceptoral neuronal activity (b-wave) was missing. Visually-driven cortical activity was also abnormal in nob animals. At the light microscopic level, the nob retina appeared to have a normal cytoarchitecture.

Conclusions: These findings suggest that the nob defect interferes with the transmission of visual information through the retina and that these mice are a useful model for the study of outer retinal synaptic function. In addition, this mutant mouse seems to provide an animal model for the complete form of congenital stationary night blindness, a human disorder in which patients have a profound loss of rod-mediated visual sensitivity.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Animals
  • Dark Adaptation
  • Disease Models, Animal*
  • Electroretinography
  • Evoked Potentials, Visual / physiology*
  • Female
  • Genetic Linkage*
  • Light
  • Male
  • Mice
  • Mice, Inbred BALB C
  • Mice, Mutant Strains
  • Mutation*
  • Neurons / pathology
  • Neurons / physiology
  • Night Blindness / genetics*
  • Night Blindness / pathology
  • Night Blindness / physiopathology
  • Pedigree
  • Photoreceptor Cells, Invertebrate / pathology
  • Photoreceptor Cells, Invertebrate / physiopathology
  • Vision, Ocular
  • X Chromosome / genetics*