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_006591.3 (26199927..26183852)||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.
|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|
|Golden Retriever||Osteogenesis imperfecta, type III, COL1A1-related||COL1A1||missense||c.1276G>C||p.Gly208Ala||2000||11147834|
|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.|
- Created by Frank Nicholas on 18 Sep 2017
- Changed by Frank Nicholas on 18 Sep 2017