title: Retinopathy and attenuated circadian entrainment in Crx-deficient mice.
abstract: 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.
authors.affiliation: Department of Genetics and Howard Hughes Medical Institute, Harvard Medical School, Boston, Massachusetts, USA. furukawa@utsw.swmed.edu
authors.forename: T
authors.initials: T
authors.lastname: Furukawa
authors.forename: E M
authors.initials: EM
authors.lastname: Morrow
authors.forename: T
authors.initials: T
authors.lastname: Li
authors.forename: F C
authors.initials: FC
authors.lastname: Davis
authors.forename: C L
authors.initials: CL
authors.lastname: Cepko
mesh_terms: D000818:Animals; D001483:Base Sequence; D002940:Circadian Rhythm / Q000235:genetics*; D017931:DNA Primers / Q000235:genetics; D005801:Genes, Homeobox; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D051379:Mice; D008810:Mice, Inbred C57BL; D018345:Mice, Knockout; D010641:Phenotype; D020419:Photoreceptor Cells, Vertebrate / Q000378:metabolism / Q000473:pathology; D010870:Pineal Gland / Q000378:metabolism / Q000473:pathology; D012164:Retinal Diseases / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D015534:Trans-Activators / Q000235:genetics*
chemical_list: D017931:DNA Primers; D018398:Homeodomain Proteins; D015534:Trans-Activators; C109288:cone rod homeobox protein