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

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 163500 (trait) , 613801 (trait) , 180072 (gene)

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_051807.1 (92774237..92746064) PDE6B 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.

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
582 Sloughi Rod-cone dysplasia 1a PDE6B insertion, small (<=20) Naturally occurring variant CanFam3.1 3 g.91747685_91747686insACTTCAGG c.2448_2449insTGAAGTCC p.(K817*) NM_001002934.2; NP_001002934.2; "an 8-bp insertion after codon 816" of the PDE6B gene 2000 11124530
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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.
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. DOI: 10.1159/000056785.

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