OMIA 001297-9615 : Early retinal degeneration in Canis lupus familiaris

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2010

Cross-species summary: This disorder has been renamed in OMIA on the basis of the review by Miyadera et al. (2012)

Species-specific symbol: erd

Breed: Norwegian Elkhound.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
STK38L serine/threonine kinase 38 like Canis lupus familiaris 27 NC_006609.3 (20509876..20429370) STK38L Homologene, Ensembl, NCBI gene

Variants

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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
Norwegian Elkhound Early retinal degeneration STK38L insertion, gross (>20) "a SINE insertion in exon 4 of the canine STK38L/NDR2 gene. The mutation removes exon 4 from STK38L transcripts" 2010 20887780

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.
2014 Genini, S., Guziewicz, K.E., Beltran, W.A., Aguirre, G.D. :
Altered miRNA expression in canine retinas during normal development and in models of retinal degeneration. BMC Genomics 15:172, 2014. Pubmed reference: 24581223. DOI: 10.1186/1471-2164-15-172.
2013 Genini, S., Beltran, W.A., Aguirre, G.D. :
Up-regulation of tumor necrosis factor superfamily genes in early phases of photoreceptor degeneration. PLoS One 8:e85408, 2013. Pubmed reference: 24367709. DOI: 10.1371/journal.pone.0085408.
2012 Miyadera, K., Acland, G.M., Aguirre, G.D. :
Genetic and phenotypic variations of inherited retinal diseases in dogs: the power of within- and across-breed studies. Mamm Genome 23:40-61, 2012. Pubmed reference: 22065099. DOI: 10.1007/s00335-011-9361-3.
2011 Berta, Á.I., Boesze-Battaglia, K., Genini, S., Goldstein, O., O'Brien, P.J., Szél, Á., Acland, G.M., Beltran, W.A., Aguirre, G.D. :
Photoreceptor cell death, proliferation and formation of hybrid rod/S-cone photoreceptors in the degenerating STK38L mutant retina. PLoS One 6:e24074, 2011. Pubmed reference: 21980341. DOI: 10.1371/journal.pone.0024074.
2010 Goldstein, O., Kukekova, A.V., Aguirre, G.D., Acland, G.M. :
Exonic SINE insertion in STK38L causes canine early retinal degeneration (erd). Genomics 96:362-8, 2010. Pubmed reference: 20887780. DOI: 10.1016/j.ygeno.2010.09.003.
2003 Kukekova, A.V., Aguirre, G.D., Acland, G.M. :
Cloning and characterization of canine SHARP1 and its evaluation as a positional candidate for canine early retinal degeneration (erd) Gene 312:335-43, 2003. Pubmed reference: 12909371.
1999 Acland, G.M., Ray, K., Mellersh, C.S., Langston, A.A., Rine, J., Ostrander, E.A., Aguirre, G.D. :
A novel retinal degeneration locus identified by linkage and comparative mapping of canine early retinal degeneration Genomics 59:134-142, 1999. Pubmed reference: 10409424. DOI: 10.1006/geno.1999.5842.
1989 Acland, G.M., Fletcher, R.T., Gentleman, S., Chader, G.J., Aguirre, G.D. :
Non-allelism of three genes (rcd1, rcd2, erd) for early-onset hereditary retinal degeneration Experimental Eye Research 49:983-998, 1989. Pubmed reference: 2558906.
1987 Acland, G.M., Aguirre, G. :
Retinal degenerations in the dog. IV Early retinal degeneration (erd) in Norwegian elkhounds Experimental Eye Research 44:491-521, 1987. Pubmed reference: 3496233.

Edit History


  • Created by Frank Nicholas on 02 Nov 2010
  • Changed by Frank Nicholas on 28 Sep 2011
  • Changed by Frank Nicholas on 02 Dec 2011
  • Changed by Frank Nicholas on 12 Dec 2011