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Osteogenesis Imperfecta

Breed: Standard Dachshund/ Longhaired

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
Osteogenesis Imperfecta
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

Breed Specific Info

Researched Breeds
Dachshund

Breed Specific Data

Zoolyx

GTP
GTP Name
Zoolyx
Gene Name
SERPINH1
Mutation
c.977T>C

Progènes-ADN

GTP Name
Progenes ADN
Gene Name
SERPINH1
Mutation
c.977T>C

PharmaDNA

GTP
GTP Name
PharmaDNA
Gene Name
SERPINH1
Mutation
c.977T>C

Laboratorios Labocor S.L.

GTP Name
Laboratorios Labocor S.L.
Gene Name
SERPINH1
Mutation
c.977T>C

INNO

GTP
GTP Name
INNO
Gene Name
SERPINH1
Mutation
c.977T>C

CMSCH

GTP
GTP Name
CMSCH
Gene Name
SERPINH1
Mutation
c.977T>C

BioBank AS

GTP Name
BioBank AS
Gene Name
SERPINH1
Mutation
c.977T>C

Agrotis S.r.l.

GTP Name
Agrotis S.r.l.
Gene Name
SERPINH1
Mutation
c.977T>C

Anicom

GTP
GTP Name
Anicom
GTP Disease Name
Brittle bone disease
Gene Name
SERPINH1
Mutation
c.977T>C

VetGen LLC

GTP Name
VetGen LLC
Gene Name
SERPINH1
Mutation
c.977C>T

Certagen GmbH

GTP Name
Certagen GmbH
Gene Name
SERPINH1
Mutation
c.977T>C

VHL Genetics

GTP Name
VHL Genetics
Gene Name
SERPINH1
Mutation
c.977T>C

Genomia s.r.o

GTP Name
Genomia s.r.o
GTP Disease Name
Brittle bone disease
Gene Name
SERPINH1
Mutation
c.977T>C
Nature of test
mutation test
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