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

Categories: Skeleton phene (incl. short stature & teeth)

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 259420 (trait) , 120150 (gene)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal dominant

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2000

Species-specific description: See also entries for osteogenesis imperfecta for which likely causal variants have so far not been identied: 'OMIA:000754-9615 : Osteogenesis imperfecta, generic' or types of the disease caused by variants in other genes, e.g., "OMIA:002112-9615 Osteogenesis imperfecta, COL1A2-related' and 'OMIA:001483-9615 Osteogenesis imperfecta, SERPINH1-related'

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."

Clinical features: Campbell et al. (2000): "a 12-week-old male golden retriever puppy of small stature ... had multiple fractures in various stages of healing affecting the ribs and nearly every long bone. Dentinogenesis imperfecta was also present."

Breed: Golden Retriever (Dog) (VBO_0200610).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).

Associated gene:

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

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 Year Published PubMed ID(s) Acknowledgements
959 Golden Retriever (Dog) 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

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:002126-9615: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70

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.

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.

Edit History


  • Created by Frank Nicholas on 18 Sep 2017
  • Changed by Frank Nicholas on 18 Sep 2017
  • Changed by Imke Tammen2 on 07 Jul 2021
  • Changed by Imke Tammen2 on 25 May 2024