Retinopathy and attenuated circadian entrainment in Crx-deficient mice
- 1 December 1999
- journal article
- letter
- Published by Springer Nature in Nature Genetics
- Vol. 23 (4) , 466-470
- https://doi.org/10.1038/70591
Abstract
Crx, an Otx-like homeobox gene, is expressed specifically in the photoreceptors of the retina and the pinealocytes of the pineal gland1,2. 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 pigmentosa5 (RP) and Leber congenital amaurosis5,6 (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.Keywords
This publication has 26 references indexed in Scilit:
- A Range of Clinical Phenotypes Associated with Mutations in CRX, a Photoreceptor Transcription-Factor GeneAmerican Journal of Human Genetics, 1998
- De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosisNature Genetics, 1998
- A pineal regulatory element (PIRE) mediates transactivation by the pineal/retina-specific transcription factor CRXProceedings of the National Academy of Sciences, 1998
- Mutations in the Cone-Rod Homeobox Gene Are Associated with the Cone-Rod Dystrophy Photoreceptor DegenerationNeuron, 1997
- Cone-Rod Dystrophy Due to Mutations in a Novel Photoreceptor-Specific Homeobox Gene (CRX) Essential for Maintenance of the PhotoreceptorPublished by Elsevier ,1997
- Crx, a Novel Otx-like Paired-Homeodomain Protein, Binds to and Transactivates Photoreceptor Cell-Specific GenesNeuron, 1997
- Crx, a Novel otx-like Homeobox Gene, Shows Photoreceptor-Specific Expression and Regulates Photoreceptor DifferentiationCell, 1997
- Developmental Expression Pattern of Phototransduction Components in Mammalian Pineal Implies a Light-Sensing FunctionJournal of Neuroscience, 1997
- Retinopathy induced in mice by targeted disruption of the rhodopsin geneNature Genetics, 1997
- Absence of receptor outer segments in the retina of rds mutant miceNeuroscience Letters, 1981