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Osteogenesis imperfecta, type III, COL1A1-related
Breed: Golden 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 in this breed
General
Disease Name
Osteogenesis imperfecta, type III, COL1A1-related
OMIA
2126
Gene Name
COL1A1
Mutation
c.1276G>C
Mutation 2
c.3991_3994del
Mutation 3
c.3991insTGTCATTGG
Test Type
Genetic Disease/Disorder
Key Comments
Golden Retrievers and their crosses: considered rare, and possibly line-specific
Details
Also known as Brittle Bone Disease. As with humans, causes abnormally brittle bones that fracture easily.
Details 2
Causes abnormally brittle bones that fracture easily.
Published
Lazar, T., deHaan, J.J., Peck, J.N., Campbell, B.G., Ginn, P.E., Phillips, L., Suero, A., Chase, J. : Osteogenesis imperfecta in three dogs from a single litter Veterinary & Comparative Orthopaedics & Traumatology 13:23-27, 2000.
Body/System/Process
Skeletal
OMIA Url
Inheritance
AD
HSP Test-Specific Data
Agrotis S.r.l.
GTP
GTP Name
Agrotis S.r.l.
Breed
OMIA
Gene Name
COL1A1
Mutation
c.1276G>C; c.3991_3994del; c.3991insTGTCATTGG
BioBank AS
GTP
GTP Name
BioBank AS
Breed
OMIA
Gene Name
COL1A1
Mutation
c.1276G>C; c.3991_3994del; c.3991insTGTCATTGG
Certagen GmbH
GTP
GTP Name
Certagen GmbH
Breed
OMIA
Gene Name
COL1A1
Mutation
c.1276G>C; c.3991_3994del; c.3991insTGTCATTGG
CMSCH
GTP
GTP Name
CMSCH
Breed
OMIA
Gene Name
COL1A1
Mutation
c.1276G>C; c.3991_3994del; c.3991insTGTCATTGG
DNA My Dog
GTP
GTP Name
DNA My Dog
Breed
OMIA
GTP Disease Name
Osteogenesis Imperfecta (Beagle Type)
GTP Disease Synonym
Brittle bone disease
Gene Name
COL1A1
Mutation
c.3991_3994del; c.3991insTGTCATTGG
Nature of test
mutation test
This test is outsourced to:
Orivet
FCI Number
111
GTP Breed
Golden Retriever
EVG Diagnostics
GTP
GTP Name
EVG Molecular Diagnostics
Breed
OMIA
Gene Name
COL1A1
Mutation
c.1276G>C
Genomia s.r.o
GTP
GTP Name
Genomia s.r.o
Breed
OMIA
Gene Name
COL1A1
Mutation
c.1145G>C
Mutation Comment
g.26193593C>G
INNO
GTP
GTP Name
INNO
Breed
OMIA
Gene Name
COL1A1
Mutation
c.1276G>C; c.3991_3994del; c.3991insTGTCATTGG
Laboratorios Labocor S.L.
GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
COL1A1
Mutation
c.1276G>C; c.3991_3994del; c.3991insTGTCATTGG
Orivet Genetic Pet Care
GTP
GTP Name
Orivet Genetic Pet Care
Breed
OMIA
GTP Disease Name
Osteogenesis Imperfecta (Beagle Type)
GTP Disease Synonym
Brittle bone disease
Gene Name
COL1A1
Mutation
c.3991_3994del; c.3991insTGTCATTGG
Nature of test
mutation test
FCI Number
111
GTP Breed
Golden Retriever
Paw Print Genetics
GTP
GTP Name
Paw Print Genetics
Breed
OMIA
GTP Disease Name
Osteogenesis Imperfecta (Beagle Type)
Gene Name
COL1A1
Mutation
Point Mutation
Nature of test
mutation test
FCI Number
111
PharmaDNA
GTP
GTP Name
PharmaDNA
Breed
OMIA
Gene Name
COL1A1
Mutation
c.1276G>C; c.3991_3994del; c.3991insTGTCATTGG
Progènes-ADN
GTP
GTP Name
Progenes ADN
Breed
OMIA
Gene Name
COL1A1
Mutation
c.1276G>C; c.3991_3994del; c.3991insTGTCATTGG
VetGen LLC
GTP
GTP Name
VetGen LLC
Breed
OMIA
Gene Name
COL1A1
Mutation
c.1276G>A
VHL Genetics
GTP
GTP Name
VHL Genetics
Breed
OMIA
Gene Name
COL1A1
Mutation
c.1276G>C; c.3991_3994del; c.3991insTGTCATTGG
Zoolyx
GTP
GTP Name
Zoolyx
Breed
OMIA
Gene Name
COL1A1
Mutation
c.1276G>C; c.3991_3994del; c.3991insTGTCATTGG
Weatherbys Scientific
GTP
GTP Name
Weatherbys Scientific
Breed
OMIA
GTP Disease Name
Osteogenesis Imperfecta (Beagle Type)
Gene Name
COL1A1
Mutation
c.1276G>C
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Key Comment