OMIA 002126-9615 : Osteogenesis imperfecta, type III, COL1A1-related in Canis lupus familiaris
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|COL1A1||collagen, type I, alpha 1||Canis lupus familiaris||9||NC_051813.1 (26994434..26978359)||COL1A1||Homologene, Ensembl, NCBI gene|
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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|
|959||Golden Retriever||Osteogenesis imperfecta, type III, COL1A1-related||COL1A1||missense||Naturally occurring variant||CanFam3.1||9||g.26193593C>G||c.1145G>C||p.(G382A)||NM_001003090.1; NP_001003090.1; published as c.1276G>C, p.(G208A); coordinates in the table have been updated to a recent reference genome and / or transcript||rs1152388502||2000||11147834|
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.
|2000||Campbell, B.G., Wootton, J.A.M., MacLeod, J.N., Minor, R.R. :|
|Sequence of normal canine COL1A1 cDNA and identification of a heterozygous alpha 1(I) collagen Gly208Ala mutation in a severe case of canine osteogenesis imperfecta Archives of Biochemistry & Biophysics 384:37-46, 2000. Pubmed reference: 11147834.|
|1997||Campbell, B.G., Wootton, J.A.M., Krook, L., Demarco, J.A., Minor, R.R. :|
|Clinical signs and diagnosis of osteogenesis imperfecta in three dogs Journal of the American Veterinary Medical Association 211:183 ff., 1997. Pubmed reference: 9227748.|
- Created by Frank Nicholas on 18 Sep 2017
- Changed by Frank Nicholas on 18 Sep 2017
- Changed by Imke Tammen2 on 07 Jul 2021