OMIA 001523-9615 : Oculoskeletal dysplasia 2 in Canis lupus familiaris |
Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
---|---|---|---|---|---|---|
COL9A2 | collagen, type IX, alpha 2 | Canis lupus familiaris | 15 | NC_051819.1 (2733779..2748412) | COL9A2 | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
641 | Samoyed | Oculoskeletal dysplasia 2 | COL9A2 | deletion, gross (>20) | Naturally occurring variant | 15 | a 1,267 bp deletion that eliminates part of the 5’UTR, all of exon 1 and part of intron 1 | 2010 | 20686772 |
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.
2020 | Iwabe, S., Dufour, V.L., Guzmán, J.M., Holle, D.M., Cohen, J.A., Beltran, W.A., Aguirre, G.D. : | |
Focal/multifocal and geographic retinal dysplasia in the dog-In vivo retinal microanatomy analyses. Vet Ophthalmol 23:292-304, 2020. Pubmed reference: 31746146. DOI: 10.1111/vop.12725. | ||
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. | ||
2010 | Goldstein, O., Guyon, R., Kukekova, A., Kuznetsova, TN., Pearce-Kelling, SE., Johnson, J., Aguirre, GD., Acland, GM. : | |
COL9A2 and COL9A3 mutations in canine autosomal recessive oculoskeletal dysplasia. Mamm Genome 21:398-408, 2010. Pubmed reference: 20686772. DOI: 10.1007/s00335-010-9276-4. | ||
1995 | Acland, G.M., Aguirre, G.D. : | |
Oculoskeletal dysplasias in Samoyed and Labrador retriever dogs: nonallelic disorders akin to Stickler-like syndromes affecting humans 2nd international DOGMAP meeting, Cambridge :, 1995. | ||
1983 | Meyers VN, Jezyk PF, Aguirre GD, Patterson DF : | |
Short-limbed dwarfism and ocular defects in the Samoyed dog. J Am Vet Med Assoc 183:975-979 , 1983. Pubmed reference: 12002589. |
Edit History
- Created by Frank Nicholas on 02 Nov 2010
- Changed by Vicki Meyers-Wallen on 13 Sep 2011
- Changed by Frank Nicholas on 28 Sep 2011
- Changed by Frank Nicholas on 08 Dec 2011
- Changed by Frank Nicholas on 12 Dec 2011
- Changed by Frank Nicholas on 15 Oct 2016