OMIA 001366-9031 : Retinal dysplasia and degeneration in Gallus gallus
Category: Vision / eye phene
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Z-linked
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2011
Species-specific symbol: rdd
Species-specific description: First reported in Scottish commercial chickens by Randall et al. (1979), this disorder was mapped to the Z chromosome by Burt et al. (2003). Comparative mapping suggests a number of candidate genes that are now under investigation (FN: 7 Oct 2003)
Mapping: "Linkage analysis mapped the rdd locus to a small region of the chicken Z chromosome with homologies to human chromosomes 5q and 9p." (Burt et al., 2003)
Molecular basis: Ali et al. (2011) identified a nonsense mutation in the MPDZ gene as the cause of this disorder.
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|MPDZ||multiple PDZ domain protein||Gallus gallus||Z||NC_052572.1 (31499022..31398868)||MPDZ||Homologene, Ensembl, NCBI gene|
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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||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|326||Retinal dysplasia and degeneration||MPDZ||nonsense (stop-gain)||Naturally occurring variant||GRCg6a||Z||g.31023848G>A||c.1372C>T||p.(R458*)||2011||21862650||Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool|
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||McKibbin, M., Ali, M., Inglehearn, C., Shires, M., Boyle, K., Hocking, P.M. :>|
|Spectral domain optical coherence tomography imaging of the posterior segment of the eye in the retinal dysplasia and degeneration chicken, an animal model of inherited retinal degeneration. Vet Ophthalmol 7:113-9, 2013. Pubmed reference: 23701506. DOI: 10.1111/vop.12051.|
|2011||Ali, M., Hocking, P.M., McKibbin, M., Finnegan, S., Shires, M., Poulter, J.A., Prescott, K., Booth, A., Raashid, Y., Jafri, H., Ruddle, J.B., Mackey, D.A., Jacobson, S.G., Toomes, C., Lester, D.H., Burt, D.W., Curry, W.J., Inglehearn, C.F. :>|
|Mpdz null allele in an avian model of retinal degeneration and mutations in human leber congenital amaurosis and retinitis pigmentosa. Invest Ophthalmol Vis Sci 52:7432-40, 2011. Pubmed reference: 21862650. DOI: 10.1167/iovs.11-7872.|
|2010||Finnegan, S., Robson, J., Hocking, P.M., Ali, M., Inglehearn, C.F., Stitt, A., Curry, W.J. :>|
|Proteomic profiling of the retinal dysplasia and degeneration chick retina. Mol Vis 16:7-17, 2010. Pubmed reference: 20069063.|
|2003||Burt, D.W., 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., Gentle, M., Smith, J., Hocking, P.M., Inglehearn, C.F. :>|
|Analysis of the rdd locus in chicken: a model for human retinitis pigmentosa Molecular Vision 9:164-70, 2003. Pubmed reference: 12724645.|
|1983||Randall, C.J., Wilson, M.A., Pollock, B.J., Clayton, R.M., Ross, A.S., Bard, J.B., McLachlan, I. :>|
|Partial retinal dysplasia and subsequent degeneration in a mutant strain of domestic fowl (rdd) Experimental Eye Research 37:337-347, 1983. Pubmed reference: 6641818.|
|1982||Wilson, M.A., Pollock, B.J., Reading, H.W., Clayton, R.M., Haywood, J., Wright, A., Randall, C.J. :>|
|Early development of a new RP-like mutant in the chick :233-239, 1982.|
|1979||Randall, C.J., McLachlan, I. :>|
|Retinopathy in commercial layers Veterinary Record 105:41-42, 1979. Pubmed reference: 555119.|
- Created by Frank Nicholas on 23 Sep 2005
- Changed by Frank Nicholas on 01 Sep 2011
- Changed by Frank Nicholas on 18 Sep 2011
- Changed by Frank Nicholas on 09 Dec 2011
- Changed by Frank Nicholas on 22 Jan 2012