The detail information of Osteogenesis imperfecta, type III, COL1A1-related
OMIA Basic Information
Possible human homologues (MIM numbers):
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal Dominant
Considered a defect: yes
Year key mutation first reported: 2000
Species-specific name: -
Species-specific symbol: -
More detail information can see in
Associated Breeds
| iDog Breed Number | Breed Name | Personality | Height | Weight | History | Breed Source |
|---|---|---|---|---|---|---|
| CB116 | Golden Retriever | 58.4-61 cm (male), 54.6-57.2 cm (female) | 29.5-34 kg (male), 24.9-29.5 kg (female) | United Kingdom (Scotland) |
Associated Gene
| Symbol | Description | Species | Position | Other Links |
|---|---|---|---|---|
| COL1A1 | collagen, type I, alpha 1 | Canis lupus familiaris | Chr9 : 26994434 - 26978359 | Homologene, Ensembl, NCBI gene |
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 . |