OMIA 001669-9615 : Rod-cone dysplasia 1a in Canis lupus familiaris

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 163500 , 613801

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2000

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

Species-specific symbol: rcd1a

Molecular basis: By cloning and sequencing a very likely comparative candidate gene (based on the homologous human disorder), Dekomien et al. (2000) reported the causal mutation in Sloughi dogs as being "an 8-bp insertion after codon 816" of the PDE6B gene.

Breed: Sloughi.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
PDE6B phosphodiesterase 6B, cGMP-specific, rod, beta Canis lupus familiaris 3 NC_006585.3 (91775372..91746571) PDE6B Homologene, Ensembl, NCBI gene


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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
Sloughi Rod-cone dysplasia 1a PDE6B insertion, small (<=20) "an 8-bp insertion after codon 816" of the PDE6B gene 2000 11124530


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.
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.
2000 Dekomien, G., Runte, M., Gödde, R., Epplen, J.T. :
Generalized progressive retinal atrophy of Sloughi dogs is due to an 8-bp insertion in exon 21 of the PDE6B gene. Cytogenet Cell Genet 90:261-7, 2000. Pubmed reference: 11124530.

Edit History

  • Created by Frank Nicholas on 29 Nov 2011
  • Changed by Frank Nicholas on 12 Dec 2011
  • Changed by Frank Nicholas on 15 Sep 2012