The detail information of Osteogenesis imperfecta, COL1A2-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: 2001
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 |
|---|---|---|---|---|---|---|
| CB24 | English Beagle | 33 cm & under 33-38.1 cm | under 9.1 kg (5.9 inches & under), 9.1-13.6 kg (5.9-6.8 inches) | United Kingdom (England) |
Associated Gene
| Symbol | Description | Species | Position | Other Links |
|---|---|---|---|---|
| COL1A2 | collagen, type I, alpha 2 | Canis lupus familiaris | Chr14 : 19699099 - 19734901 | 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.
| 2019 |
Letko,A.,Zdora,I.,Hitzler,V.,Jagannathan,V.,Beineke,A.,Möhrke,C.,Drögemüller,C.,Letko,A.,Zdora,I.,Hitzler,V.,Jagannathan,V.,Beineke,A.,Möhrke,C.,Drögemüller,C.: :
A de novo in-frame duplication in the COL1A2 gene in a Lagotto Romagnolo dog with osteogenesis imperfecta. Anim Genet :, 2019. Pubmed reference: 31468557 . DOI: 10.1111/age.12843 . |
| 2017 |
Quist,E.M.,Doan,R.,Pool,R.R.,Porter,B.F.,Bannasch,D.L.,Dindot,S.V.: :
Identification of a candidate mutation in the COL1A2 gene of a Chow Chow with osteogenesis imperfecta. J Hered :, 2017. Pubmed reference: 29036614 . DOI: 10.1093/jhered/esx074 . |
| 2001 |
Campbell,B.G.,Wootton,J.A.M.,Macleod,J.N.,Minor,R.R.: :
Canine COL1A2 mutation resulting in C-terminal truncation of pro-alpha 2(I) and severe osteogenesis imperfecta Journal of Bone & Mineral Research 16:1147-1153, 2001. Pubmed reference: 11393792 . DOI: 10.1359/jbmr.2001.16.6.1147 . |