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 |
Variants
By default, variants are sorted chronologically by year of publication, to provide a historical perspective.
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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 |
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. |
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