The detail information of Oculoskeletal dysplasia 2
OMIA Basic Information
Possible human homologues (MIM numbers):
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal Recessive
Considered a defect: yes
Year key mutation first reported: 2010
Species-specific name: -
Species-specific symbol: osd2; drd2
More detail information can see in
Associated Breeds
| iDog Breed Number | Breed Name | Personality | Height | Weight | History | Breed Source |
|---|---|---|---|---|---|---|
| CB210 | Samoyed | 53.3-59.7 cm (male), 48.3-53.3 cm (female) | 20.4-29.5 kg (male), 15.9-22.7 kg (female) | Russia |
Associated Gene
| Symbol | Description | Species | Position | Other Links |
|---|---|---|---|---|
| COL9A2 | collagen, type IX, alpha 2 | Canis lupus familiaris | Chr15 : 2733779 - 2748412 | 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.
| 2012 |
Miyadera,K.,Acland,G.M.,Aguirre,G.D.: :
Genetic and phenotypic variations of inherited retinal diseases in dogs: the power of within- and across-breed studies. Mamm Genome 23:40-61, 2012. Pubmed reference: 22065099 . DOI: 10.1007/s00335-011-9361-3 . |
| 2010 |
Goldstein,O.,Guyon,R.,Kukekova,A.,Kuznetsova,TN.,Pearce-Kelling,SE.,Johnson,J.,Aguirre,GD.,Acland,GM.: :
COL9A2 and COL9A3 mutations in canine autosomal recessive oculoskeletal dysplasia. Mamm Genome 21:398-408, 2010. Pubmed reference: 20686772 . DOI: 10.1007/s00335-010-9276-4 . |
| 1995 |
Acland,G.M.,Aguirre,G.D.: :
Oculoskeletal dysplasias in Samoyed and Labrador retriever dogs: nonallelic disorders akin to Stickler-like syndromes affecting humans 2nd international DOGMAP meeting, Cambridge :, 1995. |
| 1983 |
MeyersVN,JezykPF,AguirreGD,PattersonDF: :
Short-limbed dwarfism and ocular defects in the Samoyed dog. J Am Vet Med Assoc 183:975-979 , 1983. Pubmed reference: 12002589 . |