Skeletal Dysplasia 2 (SD2)
Dwarfism
Skeletal Dysplasia 2 (SD2) is an inherited musculoskeletal disease that leads to a form of mild disproportionate dwarfism in affected dogs. Symptoms include the development of short legs with a normal body length and width. Front leg bones are typically shorter and thicker and are frequently more affected than rear legs. Joints and eyes are not typically affected by this disease. Height for affected dogs can be variable and not all dogs that inherit two copies of the mutation will show characteristics of dwarfism.
Reading Your Results
A. (CLEAR/NORMAL):
These dogs have two copies of the normal gene and will neither develop Skeletal Dysplasia nor pass this mutation to their offspring.
B. (CARRIER/NOT AFFECTED):
These dogs have one copy of the normal gene and one copy of the mutation associated with this disease. They will not develop Skeletal Dysplasia but will, if bred, pass the mutation to 50% of its offspring, on average.
C. (AT RISK/AFFECTED):
These dogs have two copies of the mutation associated with Skeletal Dysplasia which may result in mild form of disproportionate dwarfism.
Additional Details
Inheritances
Autosomal Recessive With Incomplete Penetrance
Affected gene
COL11A2
Chromosome
Ch. 12
Mutation
C.143G>C
Publication:
Frischknecht M, Niehof-Oellers H, Jagannathan V, Owczarek-Lipska M, Drogemuller 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. 2013;8(3):e60149 [PubMed: 23527306]
