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Osteogenesis Imperfecta
Breed: Rabbit Dachshund/ wirehaired
Generic Phene Data
Breeds
Relevance Rating: There is some evidence or research available for these breeds
General
Disease Name
Osteogenesis Imperfecta
OMIA
1483
Gene Name
SERPINH1
Mutation
c.325delC
Mutation 2
c.977C>T
Test Type
Genetic Disease/Disorder
Details
Causes bones and teeth to be extremely brittle and easy to break. Joints may also be very flexible
Details 2
Osteogenesis imperfecta (OI) is a hereditary disease occurring in humans and dogs. It is characterized by extremely fragile bones and teeth. Most human and some canine OI cases are caused by mutations in the COL1A1 and COL1A2 genes encoding the subunits of collagen I...(From Drogemuller et al, 2009)
Published
Drogemuller, C., Becker, D., Brunner, A., Haase, B., Kircher, P., Seeliger, F., Fehr, M., Baumann, U., Lindblad-Toh, K., Leeb, T.: A missense mutation in the SERPINH1 gene in Dachshunds with osteogenesis imperfecta. PLoS Genet 5:e1000579, 2009. Pubmed reference: 19629171. DOI: 10.1371/journal.pgen.1000579
Published 2
Eckardt J, Kluth S, Dierks C, Philipp U, Distl O. Population screening for the mutation associated with osteogenesis imperfecta in dachshunds. Vet Rec. 2013 Apr 6;172(14):364. doi: 10.1136/vr.101122. Epub 2013 Jan 12. PMID: 23315765.
Body/System/Process
Skeletal
OMIA Url
Inheritance
AR
Breed Specific Info
Researched Breeds
Dachshund
HSP Test-Specific Data
Agrotis S.r.l.
GTP
GTP Name
Agrotis S.r.l.
Breed
OMIA
Gene Name
SERPINH1
Mutation
c.977T>C
Anicom Specialty Medical Institute Inc.
GTP
GTP Name
Anicom
Breed
OMIA
GTP Disease Name
Brittle bone disease
Gene Name
SERPINH1
Mutation
c.977T>C
BioBank AS
GTP
GTP Name
BioBank AS
Breed
OMIA
Gene Name
SERPINH1
Mutation
c.977T>C
Generatio GmbH Center for Animal Genetics
GTP
GTP Name
Generatio GmbH Center for Animal Genetics
Breed
OMIA
GTP Disease Name
Brittle bone disease
Gene Name
SERPINH1
Mutation
c.977T>C
Certagen GmbH
GTP
GTP Name
Certagen GmbH
Breed
OMIA
Gene Name
SERPINH1
Mutation
c.977T>C
CMSCH
GTP
GTP Name
CMSCH
Breed
OMIA
Gene Name
SERPINH1
Mutation
c.977T>C
Genomia s.r.o
GTP
GTP Name
Genomia s.r.o
Breed
OMIA
GTP Disease Synonym
OI
Gene Name
SERPINH1
Mutation
c.977T>C
Mutation Comment
g.23033735T>C
INNO
GTP
GTP Name
INNO
Breed
OMIA
Gene Name
SERPINH1
Mutation
c.977T>C
Laboratorios Labocor S.L.
GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
SERPINH1
Mutation
c.977T>C
PharmaDNA
GTP
GTP Name
PharmaDNA
Breed
OMIA
Gene Name
SERPINH1
Mutation
c.977T>C
Progènes-ADN
GTP
GTP Name
Progenes ADN
Breed
OMIA
Gene Name
SERPINH1
Mutation
c.977T>C
VHL Genetics
GTP
GTP Name
VHL Genetics
Breed
OMIA
Gene Name
SERPINH1
Mutation
c.977T>C
Zoolyx
GTP
GTP Name
Zoolyx
Breed
OMIA
Gene Name
SERPINH1
Mutation
c.977T>C
AnimaLabs
GTP
GTP Name
AnimaLabs
Breed
OMIA
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