Retinopathy and attenuated circadian entrainment in Crx-deficient mice

Nat Genet. 1999 Dec;23(4):466-70. doi: 10.1038/70591.


Crx, an Otx-like homeobox gene, is expressed specifically in the photoreceptors of the retina and the pinealocytes of the pineal gland. Crx has been proposed to have a role in the regulation of photoreceptor-specific genes in the eye and of pineal-specific genes in the pineal gland. Mutations in human CRX are associated with the retinal diseases, cone-rod dystrophy-2 (adCRD2; refs 3, 4, 5), retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA), which all lead to loss of vision. We generated mice carrying a targeted disruption of Crx. Crx-/- mice do not elaborate photoreceptor outer segments and lacked rod and cone activity as assayed by electroretinogram (ERG). Expression of several photoreceptor- and pineal-specific genes was reduced in Crx mutants. Circadian entrainment was also affected in Crx-/- mice.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Base Sequence
  • Circadian Rhythm / genetics*
  • DNA Primers / genetics
  • Genes, Homeobox
  • Homeodomain Proteins / genetics*
  • Humans
  • Mice
  • Mice, Inbred C57BL
  • Mice, Knockout
  • Phenotype
  • Photoreceptor Cells, Vertebrate / metabolism
  • Photoreceptor Cells, Vertebrate / pathology
  • Pineal Gland / metabolism
  • Pineal Gland / pathology
  • Retinal Diseases / genetics*
  • Retinal Diseases / metabolism
  • Retinal Diseases / pathology
  • Trans-Activators / genetics*


  • DNA Primers
  • Homeodomain Proteins
  • Trans-Activators
  • cone rod homeobox protein