Skeletal Dysplasia 2 (SD2)
Breed: Australian Labradoodle
Generic Phene Data
Breeds
Relevance Rating: There is some evidence or research available for these breeds
Relevance Rating: The test is unknown, there is no evidence (i.e. research) available, or it has not been evaluated yet. These tests may or may not be meaningful for these breeds
General
Disease Name
Skeletal Dysplasia 2 (SD2)
OMIA
1772
Gene Name
COL11A2
Mutation
c.143G>C
Test Type
Genetic Disease/Disorder
Details
A mild form of disproportionate dwarfism, resulting in shorter limbs.
Details 2
The SD2 phenotype is characterized by short legs with normal body length and width. In most cases the forelegs are slightly more affected than the hind legs. The international breed standard calls for shoulder heights of 56 cm?57 cm in male and 54 cm?56 cm in female Labrador Retrievers, respectively. The shoulder height in affected animals is reduced by ~6 cm on average. However, it must be noted that shoulder height is only an imperfect proxy for the SD2 phenotype as shoulder height is a complex trait with significant variance due to genetic and environmental factors. According to breeders' reports SD2-affected dogs are not particurlarly prone to secondary joint degeneration or any other health problems apart from the disproportionate dwarfism. Skeletal dysplasia 2 (SD2) is a mild form of disproportionate dwarfism in Labrador Retrievers. Affected dogs have short legs and their shoulder height is reduced by ~6 cm compared to non-affected dogs. (From OMIA)
Published
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.
Body/System/Process
Skeletal
OMIA Url
Inheritance
AR
HSP Test-Specific Data
Agrotis S.r.l.
GTP
GTP Name
Agrotis S.r.l.
Breed
OMIA
Gene Name
COL11A2
Mutation
c.143G>C
Anicom Specialty Medical Institute Inc.
GTP
GTP Name
Anicom
Breed
OMIA
GTP Disease Name
Skeletal Dysplasia 2
Gene Name
COL11A2
Mutation
c.143G>C
BioBank AS
GTP
GTP Name
BioBank AS
Breed
OMIA
Gene Name
COL11A2
Mutation
c.143G>C
Certagen GmbH
GTP
GTP Name
Certagen GmbH
Breed
OMIA
Gene Name
COL11A2
Mutation
c.143G>C
CMSCH
GTP
GTP Name
CMSCH
Breed
OMIA
Gene Name
COL11A2
Mutation
c.143G>C
INNO
GTP
GTP Name
INNO
Breed
OMIA
Gene Name
COL11A2
Mutation
c.143G>C
Laboratorios Labocor S.L.
GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
COL11A2
Mutation
c.143G>C
Paw Print Genetics
GTP
GTP Name
Paw Print Genetics
Breed
OMIA
GTP Disease Name
Skeletal Dysplasia 2
Gene Name
COL11A2
Mutation
c.143G>C
Nature of test
mutation test
FCI Number
-28
PharmaDNA
GTP
GTP Name
PharmaDNA
Breed
OMIA
Gene Name
COL11A2
Mutation
c.143G>C
Progènes-ADN
GTP
GTP Name
Progenes ADN
Breed
OMIA
Gene Name
COL11A2
Mutation
c.143G>C
VetGen LLC
GTP
GTP Name
VetGen LLC
Breed
OMIA
Gene Name
COL11A2
Mutation
c.143G>A
VHL Genetics
GTP
GTP Name
VHL Genetics
Breed
OMIA
Gene Name
COL11A2
Mutation
c.143G>C
Zoolyx
GTP
GTP Name
Zoolyx
Breed
OMIA
Gene Name
COL11A2
Mutation
c.143G>C
AnimaLabs
GTP
GTP Name
AnimaLabs
Breed
OMIA