OMIA 001366-9031 : Retinal dysplasia and degeneration in Gallus gallus

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.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
MPDZ multiple PDZ domain protein Gallus gallus Z NC_006127.5 (31057227..30957128) MPDZ 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
Retinal dysplasia and degeneration MPDZ nonsense (stop-gain) Galgal4 Z g.30882785C>T c.1372C>T p.R458* 2011 21862650 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool

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 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 :, 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.

Edit History


  • 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