OMIA 001245-9031 : Retinal degeneration I in Gallus gallus |
Semple-Rowland and Cheng (1999) showed that "both the rd and rc chickens carry the same GC1 null mutation", and proposed replacing the symbols "rd" and rc" with GUCY1*.
Associated gene:Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
---|---|---|---|---|---|---|
GC1 | photoreceptor guanylate cyclase 1 | Gallus gallus | 13 | NC_006100.5 (510100..524411) | GC1 | 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 second, third etc relevant column headers.
WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Rhode Island Red | Retinal degeneration I | GC1 | complex rearrangement | This allele is characterised by an 81bp insertion adjacent to a 642bp deletion | 1998 | 9448321 |
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.
2013 | Valdez, D.J., Nieto, P.S., Díaz, N.M., Garbarino-Pico, E., Guido, M.E. : | |
Differential regulation of feeding rhythms through a multiple-photoreceptor system in an avian model of blindness. FASEB J 27:2702-12, 2013. Pubmed reference: 23585397. DOI: 10.1096/fj.12-222885. | ||
2001 | Semple-Rowland, S.L., Tepedino, M., Coleman, J.E. : | |
Pinopsin mRNA levels are significantly elevated in the pineal glands of chickens carrying a null mutation in guanylate cyclase-1 Molecular Brain Research 97:51-58, 2001. Pubmed reference: 11744162. | ||
1999 | Larkin, P., Baehr, W., Semple-Rowland, S.L. : | |
Circadian regulation of iodopsin and clock is altered in the retinal degeneration chicken retina. Brain Res Mol Brain Res 70:253-63, 1999. Pubmed reference: 10407173. | ||
Semple-Rowland, S.L., Cheng, K.M. : | ||
rd and rc chickens carry the same GC1 null allele (GUCY1) Experimental Eye Research 69:579-581, 1999. Pubmed reference: 10548480. DOI: 10.1006/exer.1999.0743. | ||
Semple-Rowland, S.L., Larkin, P., Bronson, J.D., Nykamp, K., Streit, W.J., Baehr, W. : | ||
Characterization of the chicken GCAP gene array and analyses of GCAP1, GCAP2, and GC1 gene expression in normal and rd chicken pineal Molecular Vision 5:NIL_7-NIL_14, 1999. | ||
1998 | Huang, Y.J., Cideciyan, A.V., Papastergiou, G.I., Banin, E., Semple-Rowland, S.L., Milam, A.H., Jacobson, S.G. : | |
Relation of optical coherence tomography to microanatomy in normal and rd chickens Investigative Ophthalmology & Visual Science 39:2405-2416, 1998. Pubmed reference: 9804149. | ||
Semple-Rowland, S.L., Lee, N.R., Van Hooser, J.P., Palczewski, K., Baehr, W. : | ||
A null mutation in the photoreceptor guanylate cyclase gene causes the retinal degeneration chicken phenotype Proceedings of the National Academy of Sciences of the United States of America 95:1271-1276, 1998. Pubmed reference: 9448321. | ||
1996 | Semple-Rowland, S.L., Gorczyca, W.A., Buczylko, J., Helekar, B.S., Ruiz, C.C., Subbaraya, I., Palczewski, K., Baehr, W. : | |
Expression of GCAP1 and GCAP2 in the retinal degeneration (rd) mutant chicken retina FEBS Letters 385:47-52, 1996. Pubmed reference: 8641465. | ||
1994 | Semple-Rowland, S.L., Green, D.A. : | |
Molecular and Biochemical Analyses of Iodopsin in Rd Chick Retina Investigative Ophthalmology & Visual Science 35:2550-2557, 1994. Pubmed reference: 7512946. | ||
Semple-Rowland, S.L., Green, D.A. : | ||
Molecular characterization of the alpha'-subunit of cone photoreceptor cGMP phosphodiesterase in normal and rd chicken Experimental Eye Research 59:365-372, 1994. Pubmed reference: 7821382. DOI: 10.1006/exer.1994.1119. | ||
1993 | Maclachlan, I., Nimpf, J., White, H.B., Schneider, W.J. : | |
Riboflavinuria in the rd Chicken - 5'-Splice Site Mutation in the Gene for Riboflavin-Binding Protein Journal of Biological Chemistry 268:23222-23226, 1993. Pubmed reference: 8226844. | ||
1992 | Semple-Rowland, S.L., Vanderwel, H. : | |
Visinin - Biochemical and Molecular Comparisons in Normal and rd Chick Retina Biochemical and Biophysical Research Communications 183:456-461, 1992. Pubmed reference: 1339269. | ||
1991 | Semple-Rowland, S.L. : | |
Expression of glial fibrillary acidic protein by Müller cells in rd chick retina. J Comp Neurol 305:582-90, 1991. Pubmed reference: 2045537. DOI: 10.1002/cne.903050405. | ||
1990 | Ulshafer, R.J., Clausnitzer, E.L., Sherry, D.M., Szél, A., Röhlich, P. : | |
Immunocytochemical identification of outer segment proteins in the rd chicken. Exp Eye Res 51:209-16, 1990. Pubmed reference: 2387336. | ||
1989 | Semple-Rowland, S.L. : | |
Two-dimensional gel electrophoretic analysis of proteins in the rd chick retina. Prog Clin Biol Res 314:455-65, 1989. Pubmed reference: 2608673. | ||
Semple-Rowland, S.L., Ulshafer, R.J. : | ||
Analysis of proteins in developing rd (retinal degeneration) chick retina using two-dimensional gel electrophoresis. Exp Eye Res 49:665-75, 1989. Pubmed reference: 2806430. | ||
1985 | Ulshafer, R.J., Allen, C.B. : | |
Hereditary retinal degeneration in the Rhode Island Red chicken: ultrastructural analysis. Exp Eye Res 40:865-77, 1985. Pubmed reference: 4018169. | ||
1984 | Ulshafer, RJ., Allen, C., Dawson, WW., Wolf, ED. : | |
Hereditary retinal degeneration in the Rhode Island Red chicken. I. Histology and ERG. Exp Eye Res 39:125-35, 1984. Pubmed reference: 6489467. | ||
1980 | Cheng, K.M., Shoffner, R.N., Gelatt, K.N., Gum, G.G., Otis, J.S., Bitgood, J.J. : | |
An autosomal recessive blind mutant in the chicken. Poultry Science 59:2179–2181, 1980. |
Edit History
- Created by Frank Nicholas on 12 Sep 2005
- Changed by Frank Nicholas on 14 Sep 2011
- Changed by Frank Nicholas on 09 Dec 2011
- Changed by Frank Nicholas on 21 May 2012
- Changed by Frank Nicholas on 14 Sep 2012
- Changed by Frank Nicholas on 24 Sep 2013
- Changed by Frank Nicholas on 25 Sep 2013