Skeletal Dysplasia 2

Application:
- Identification of heterozygous carriers
- Differential diagnosis of growth disorders
The mutation in the gene COL11A2 investigated here leads to Skeletal Dysplasia 2 (SD2) in Labradors in the homozygous state. This is a mild form of disproportionate dwarfism. An affected dog may develop the typical phenotype of shortened legs with otherwise normal body size. However, other predispositions that also influence body size may still partially or completely compensate for the effect of the mutation.