The detail information of Skeletal dysplasia 2 (SD2)
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: 2013

Species-specific name: Skeletal dysplasia 2

Species-specific symbol: SD2

More detail information can see in

Associated Breeds
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)
Associated Gene
Symbol Description Species Position Other Links
COL11A2 collagen, type XI, alpha 2 Canis lupus familiaris Chr12 : 2986887 - 2957578 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.
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 .