Possible human homologues (MIM numbers):
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal Recessive
Considered a defect: yes
Year key mutation first reported: 2013
Species-specific name: Skeletal dysplasia 2
Species-specific symbol: SD2
More detail information can see in
iDog Breed Number | Breed Name | Personality | Height | Weight | History | Breed Source |
---|---|---|---|---|---|---|
CB147 | Labrador Retriever | 57.2-62.2 cm (male), 54.6-59.7 cm (female) | 29.5-36.3 kg (male), 24.9-31.8 kg (female) | Canada, United Kingdom (England) |
Symbol | Description | Species | Position | Other Links |
---|---|---|---|---|
COL11A2 | collagen, type XI, alpha 2 | Canis lupus familiaris | Chr12 : 2986887 - 2957578 | Homologene, Ensembl, NCBI gene |
2013 |
Frischknecht,M.,Niehof-Oellers,H.,Jagannathan,V.,Owczarek-Lipska,M.,Drögemüller,C.,Dietschi,E.,Dolf,G.,Tellhelm,B.,Lang,J.,Tiira,K.,Lohi,H.,Leeb,T.: :
A COL11A2 mutation in Labrador retrievers with mild disproportionate dwarfism. PLoS One 8:e60149, 2013. Pubmed reference: 23527306 . DOI: 10.1371/journal.pone.0060149 . |