Abbreviated Name: SD2
Disease Description: Skeletal dysplasia 2 (SD2) is a form of dwarfism known as the mild disproportionate dwarfism.
Inherit Mode: Autosomal recessive
Disease Symptom: Dogs with an inherited SD2 develope short legs and front legs are commonly more severe affected than the back legs. While the legs develope shorter than the standards for a particular breed, body’s development occurs normal. Most male Labrador retriever dogs affected by SD2 are under 55 cm at the shoulder and females are often shorter than 50 cm. However, in consideration should be taken the variability in blood lines among Labrador retrievers and also in physical display of the SD2, since it can happen that affected dogs from large Labrador blood lines can appear the same size as unaffected dogs from smaller blood lines.
Disease Cause: Skeletal dysplasia 2 (SD2) is caused by a mutation in COL11A2 gene
Disease Diagnose: -
Treat Method: -
Breeder Advice: -
Disease Description Source: Link
| Disease Name | Other Name | Mode of inheritance | Link ID | Possible OMIM ID | Gene |
|---|---|---|---|---|---|
| Skeletal dysplasia 2 (SD2) | Skeletal dysplasia 2 | Autosomal Recessive | COL11A2 |
| 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 . |