OMIA 001368-9031 : Retinopathy globe enlarged in Gallus gallus

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: 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 - no genomic information (-..-) GNB3 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
Retinopathy globe enlarged GNB3 deletion, small (<=20) c.D153del 2006 17065478

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