OMIA 000881-9685 : Rod-cone dysplasia in Felis catus |
In other species:
dog
Possibly relevant human trait(s) and/or gene(s) (MIM number):
602225
Mendelian trait/disorder:
yes
Mode of inheritance:
Autosomal Dominant
Considered a defect:
yes
Key variant known:
yes
Year key variant first reported:
2010
Species-specific symbol:
Rdy
Molecular basis:
Menotti-Raymond et al. (2010) provided convincing evidence that this form of retinopathy, so long studied, is the result of a frameshift mutation due to a single base deletion in the cone-rod homeobox-containing gene (CRX).
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| CRX | cone-rod homeobox | Felis catus | E2 | NC_018737.3 (6108511..6098776) | CRX | Homologene, Ensembl, NCBI gene |
Variants
By default, variants are sorted chronologically by year of publication, to provide a historical perspective.
Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the required column headers
| Breed(s) | Variant Phenotype | Gene | Allele | Type of Variant | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Rod-cone dysplasia | CRX | deletion, small (<=20) | A single base deletion in the cone-rod homeobox-containing gene (CRX) | 2010 | 20053974 |
References
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
| 2011 | Narfström, K., Holland Deckman, K., Menotti-Raymond, M. : | |
| The domestic cat as a large animal model for characterization of disease and therapeutic intervention in hereditary retinal blindness. J Ophthalmol 2011:906943, 2011. Pubmed reference: 21584261. DOI: 10.1155/2011/906943. | ||
| Narfström, K., Menotti Raymond, M., Seeliger, M. : | ||
| Characterization of feline hereditary retinal dystrophies using clinical, functional, structural and molecular genetic studies. Vet Ophthalmol 14 Suppl 1:30-6, 2011. Pubmed reference: 21923821. DOI: 10.1111/j.1463-5224.2011.00915.x. | ||
| 2010 | Menotti-Raymond, M., Deckman, KH., David, VA., Myrkalo, J., O'Brien, SJ., Narfstrom, K. : | |
| Mutation discovered in a feline model of human congenital retinal blinding disease. Invest Ophthalmol Vis Sci 51:2852-2859, 2010. Pubmed reference: 20053974. DOI: 10.1167/iovs.09-4261. | ||
| 2002 | Gould, D.J., Sargan, D.R. : | |
| Autosomal dominant retinal dystrophy (Rdy) in Abyssinian cats: exclusion of PDE6G and ROM1 and likely exclusion of Rhodopsin as candidate genes Animal Genetics 33:436-440, 2002. Pubmed reference: 12464018. | ||
| 1999 | Chong, N.H.V., Alexander, R.A., Barnett, K.C., Bird, A.C., Luthert, P.J. : | |
| An immunohistochemical study of an autosomal dominant feline rod/cone dysplasia (Rdy cats) Experimental Eye Research 68:51-57, 1999. Pubmed reference: 9986741. DOI: 10.1006/exer.1998.0580. | ||
| 1993 | Gorin, M.B., Snyder, S., To, A., Narfstrom, K., Curtis, R. : | |
| The Cat RDS Transcript - Candidate Gene Analysis and Phylogenetic Sequence Analysis Mammalian Genome 4:544-548, 1993. Pubmed reference: 8118105. | ||
| Narfstrom, K., Ivert, L., Yamamoto, S., Gouras, P. : | ||
| Adaptation of Rod and Cone Electroretinograms in the Abyssinian Cat Hereditary Rod-Cone Degeneration Clinical Vision Sciences 8:177-185, 1993. | ||
| 1991 | Anderson, R.E., Maude, M.B., Nilsson, S.E., Narfstrom, K. : | |
| Plasma Lipid Abnormalities in the Abyssinian Cat with a Hereditary Rod-Cone Degeneration Experimental Eye Research 53:415-417, 1991. Pubmed reference: 1936178. | ||
| Holmes, N.G., Curtis, R. : | ||
| Changes in a Photoreceptor Polypeptide Correlating with an Early-Onset Retinal Dystrophy in the Cat Molecular and Cellular Biochemistry 107:111-117, 1991. Pubmed reference: 1791824. | ||
| Leon, A., Hussain, A.A., Curtis, R. : | ||
| Autosomal Dominant Rod Cone Dysplasia in the Rdy Cat .2. Electrophysiological Findings Experimental Eye Research 53:489-502, 1991. Pubmed reference: 1936184. | ||
| 1990 | Leon, A., Curtis, R. : | |
| Autosomal Dominant Rod Cone Dysplasia in the Rdy Cat .1. Light and Electron Microscopic Findings Experimental Eye Research 51:361-381, 1990. Pubmed reference: 2209749. | ||
| 1987 | Curtis, R., Barnett, K.C., Leon, A. : | |
| An early-onset retinal dystrophy with dominant inheritance in the Abyssinian cat. Clinical and pathological findings Investigative Ophthalmology and Visual Science 28:131-139, 1987. Pubmed reference: 3804643. | ||
| 1985 | Barnett, KC., Curtis, R. : | |
| Autosomal dominant progressive retinal atrophy in Abyssinian cats. J Hered 76:168-70, 1985. Pubmed reference: 3998438. |
Edit History
- Created by Frank Nicholas on 08 Apr 2010
- Changed by Frank Nicholas on 30 Sep 2011
- Changed by Frank Nicholas on 09 Dec 2011