OMIA:001368-9031 : Retinopathy globe enlarged in Gallus gallus (chicken) |
Categories: Vision / eye phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 617024 (trait) , 139130 (gene)
Single-gene trait/disorder: yes
Mode of inheritance: Autosomal recessive
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2006
Species-specific symbol: rge
Molecular basis: Tummala et al. (2006) showed the molecular basis of this mutation to be "a 3-bp deletion (D153del) that . . . deleted a highly conserved aspartic acid residue in the third of seven WD domains in GNB3".
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| GNB3 | guanine nucleotide binding protein (G protein), beta polypeptide 3 | Gallus gallus | 1 | NC_052532.1 (77193355..77205055) | GNB3 | Homologene, Ensembl , NCBI gene |
Variants
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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.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
| OMIA Variant ID | Breed(s) | Variant Phenotype | Gene | Allele | Type of Variant | Source of Genetic Variant | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 515 | Retinopathy globe enlarged | GNB3 | deletion, small (<=20) | Naturally occurring variant | 1 | c.D153del | 2006 | 17065478 |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2011). OMIA:001368-9031: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
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 | Tummala, H., Fleming, S., Hocking, P.M., Wehner, D., Naseem, Z., Ali, M., Inglehearn, C.F., Zhelev, N., Lester, D.H. : |
| The D153del mutation in GNB3 gene causes tissue specific signalling patterns and an abnormal renal morphology in Rge chickens. PLoS One 6(8):e21156, 2011. Pubmed reference: 21887213. DOI: 10.1371/journal.pone.0021156. | |
| 2009 | Boote, C., Hayes, S., Young, RD., Kamma-Lorger, CS., Hocking, PM., Elsheikh, A., Inglehearn, CF., Ali, M., Meek, KM. : |
| Ultrastructural changes in the retinopathy, globe enlarged (rge) chick cornea. J Struct Biol 166:195-204, 2009. Pubmed reference: 2338255. | |
| 2008 | Boote, C., Hayes, S., Jones, S., Quantock, AJ., Hocking, PM., Inglehearn, CF., Ali, M., Meek, KM. : |
| Collagen organization in the chicken cornea and structural alterations in the retinopathy, globe enlarged (rge) phenotype--an X-ray diffraction study. J Struct Biol 161:1-8, 2008. Pubmed reference: 17936639. DOI: 10.1016/j.jsb.2007.08.015. | |
| 2007 | Montiani-Ferreira, F., Shaw, G.C., Geller, A.M., Petersen-Jones, S.M. : |
| Electroretinographic features of the retinopathy, globe enlarged (rge) chick phenotype. Mol Vis 13:553-65, 2007. Pubmed reference: 17438521. | |
| 2006 | Tummala, H., Ali, M., Getty, P., Hocking, PM., Burt, DW., Inglehearn, CF., Lester, DH. : |
| Mutation in the guanine nucleotide-binding protein beta-3 causes retinal degeneration and embryonic mortality in chickens. Invest Ophthalmol Vis Sci 47:4714-8, 2006. Pubmed reference: 17065478. DOI: 10.1167/iovs.06-0292. | |
| 2005 | Montiani-Ferreira, F., Fischer, A., Cernuda-Cernuda, R., Kiupel, M., DeGrip, WJ., Sherry, D., Cho, SS., Shaw, GC., Evans, MG., Hocking, PM., Petersen-Jones, SM. : |
| Detailed histopathologic characterization of the retinopathy, globe enlarged (rge) chick phenotype. Mol Vis 11:11-27, 2005. Pubmed reference: 15660021. | |
| 2004 | Inglehearn CF, Mohamed MD, Downey LM, Simmons I, Thaung C, Bridges L, Roberston GW, Burt DW, Hocking PM : |
| Blindness Enlarged Globe (beg), a recessively inherited mutation in chickens Invest. Ophthalmol. Vis. Sci. 45:3588, 2004. | |
| Montiani-Ferreira, F., Kiupel, M., Petersen-Jones, SM. : | |
| Spontaneous lacquer crack lesions in the retinopathy, globe enlarged (rge) chick. J Comp Pathol 131:105-11, 2004. Pubmed reference: 15276849. DOI: 10.1016/j.jcpa.2004.01.009. | |
| 2003 | Inglehearn CF, Morrice DR, Lester DH, Mohamed MD, Simmons I, Bridges L, Smith J, Hocking PM, Members of the Blind Chickens Study Group, Burt DW : |
| Analysis of the rdd Mutant, a Pigmentary Retinopathy in Chickens Invest. Ophthalmol. Vis. Sci. 44:4533, 2003. | |
| Inglehearn, C.F., Morrice, D.R., Lester, D.H., Robertson, G.W., Mohamed, M.D., Simmons, I., Downey, L.M., Thaung, C., Bridges, L.R., Paton, I.R., Smith, J., Petersen-Jones, S., Hocking, P.M., Burt, D.W. : | |
| Genetic, ophthalmic, morphometric and histopathological analysis of the Retinopathy Globe Enlarged (rge) chicken Molecular Vision 9:295-300, 2003. Pubmed reference: 12847422. | |
| Montiani-Ferreira, F., Li, T., Kiupel, M., Howland, H., Hocking, P., Curtis, R., Petersen-Jones, S. : | |
| Clinical features of the retinopathy, globe enlarged (rge) chick phenotype Vision Research 43:2009-18, 2003. Pubmed reference: 12842154. | |
| 1988 | Curtis, R., Baker, J.R., Curtis, P.E., Johnston, A. : |
| An inherited retinopathy in commercial breeding chickens Avian Pathology 17:87-99, 1988. | |
| 1987 | Curtis, P.E., Baker, J.R., Curtis, R., Johnston, A. : |
| Impaired vision in chickens associated with retinal defects Veterinary Record 120:113-114, 1987. Pubmed reference: 3604018. |
Edit History
- Created by Frank Nicholas on 29 Nov 2006
- Changed by Frank Nicholas on 01 Sep 2011
- Changed by Frank Nicholas on 09 Dec 2011