Skeletal Dysplasia 2 (SD2)
Breed: Labrador Retriever
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
GTPs
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
Antagene
GTP
GTP Name
Antagene
Breed
OMIA
GTP Disease Name
Dwarfism
Gene Name
COL11A2
Mutation
c.143G>C
Nature of test
mutation test
FCI Number
122
GTP Breed
Labrador Retriever
BioBank AS
GTP
GTP Name
BioBank AS
Breed
OMIA
Gene Name
COL11A2
Mutation
c.143G>C
Generatio GmbH Center for Animal Genetics
GTP
GTP Name
Generatio GmbH Center for Animal Genetics
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
DNA My Dog
GTP
GTP Name
DNA My Dog
Breed
OMIA
GTP Disease Name
Dwarfism
Gene Name
COL11A2
Mutation
c.143G>C
Nature of test
mutation test
This test is outsourced to:
Orivet
FCI Number
122
GTP Breed
Labrador Retriever
EVG Diagnostics
GTP
GTP Name
EVG Molecular Diagnostics
Breed
OMIA
Gene Name
COL11A2
Mutation
c.143G>C
Genomia s.r.o
GTP
GTP Name
Genomia s.r.o
Breed
OMIA
GTP Disease Name
Skeletal dysplasia 2
GTP Disease Synonym
Dwarfism
Gene Name
COL11A2
Mutation
c.143G>C
Mutation Comment
g.2652874C>G
Nature of test
mutation test
FCI Number
122
GTP Breed
Labrador Retriever
INNO
GTP
GTP Name
INNO
Breed
OMIA
Gene Name
COL11A2
Mutation
c.143G>C
Laboklin Gmbh & Co. KG
GTP
GTP Name
Laboklin Gmbh & Co. KG
Breed
OMIA
GTP Disease Name
Dwarfism
Gene Name
COL11A2
Mutation
c.143G>C
Nature of test
mutation test
FCI Number
122
GTP Breed
Labrador Retriever
Laboratorios Labocor S.L.
GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
COL11A2
Mutation
c.143G>C
Orivet Genetic Pet Care
GTP
GTP Name
Orivet Genetic Pet Care
Breed
OMIA
GTP Disease Name
Dwarfism
Gene Name
COL11A2
Mutation
c.143G>C
Nature of test
mutation test
FCI Number
122
GTP Breed
Labrador Retriever
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
122
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
The Kennel Club
GTP
GTP Name
The Kennel Club
Breed
OMIA
GTP Disease Name
Skeletal Dysplasia 2
Gene Name
COL11A2
Mutation
c.143G>C
This test is outsourced to:
Weatherby's
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
Weatherbys Scientific
GTP
GTP Name
Weatherbys Scientific
Breed
OMIA
Gene Name
COL11A2
Mutation
c.143G>C
Wisdom Panel - Kinship
GTP
GTP Name
Wisdom Panel - Kinship
Breed
OMIA
GTP Disease Name
Dwarfism
Gene Name
COL11A2
Mutation
c.143G>C
Nature of test
mutation test
FCI Number
122
GTP Breed
Labrador Retriever
Zoolyx
GTP
GTP Name
Zoolyx
Breed
OMIA
Gene Name
COL11A2
Mutation
c.143G>C
AnimaLabs
GTP
GTP Name
AnimaLabs
Breed
OMIA