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)
Single-gene trait/disorder: yes
Mode of inheritance: Autosomal dominant
Disease-related: 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
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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 | 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 Arch Biochem Biophys 384:37-46, 2000. Pubmed reference: 11147834. DOI: 10.1006/abbi.2000.2099. | |
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 J Am Vet Med Assoc 211:183-7, 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