OMIA 002126-9615 : Osteogenesis imperfecta, type III, COL1A1-related in Canis lupus familiaris

Possibly relevant human trait(s) and/or gene(s) (MIM number): 259420

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Dominant

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2000

Molecular basis: By cloning and sequencing a very likely comparative candidate gene (based on the homologous human disorder), Campbell et al. (2000) showed that the disorder in a Golden Retriever was due to "a G to C point mutation for nucleotide 1,276 [of the COL1A1 gene], predicting a codon change from glycine (GGA) to alanine (GCA) for amino acid 208. This change disrupts the normal Gly-X-Y pattern of the collagen triple helix."

Breed: Golden Retriever.

Associated gene:

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

Variants

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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
Golden Retriever Osteogenesis imperfecta, type III, COL1A1-related COL1A1 missense c.1276G>C p.Gly208Ala 2000 11147834

Reference


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.

Edit History


  • Created by Frank Nicholas on 18 Sep 2017
  • Changed by Frank Nicholas on 18 Sep 2017