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Osteogenesis Imperfecta

Breed: Dachshunds

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 Data

Agrotis S.r.l.

GTP Name
Agrotis S.r.l.
Breed
Gene Name
SERPINH1
Mutation
c.977C>T; c.325delC

Anicom

GTP
GTP Name
Anicom
Breed
GTP Disease Name
Brittle bone disease
Gene Name
SERPINH1
Mutation
c.325delC

Antagene

GTP
GTP Name
Antagene
Breed
GTP Disease Name
Brittle bone disease
Gene Name
SERPINH1
Mutation
c.977C>T
Nature of test
mutation test
GTP- or Breed-Specific Publications
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 osteogene
Application in the Breed
Carriers may be bred to normal animals (N/oi x N/N) . Offspring should be tested before breeding. No breeding of two carriers (N/oi x N/oi) nor of affected animals (oi/oi) Causes bones and teeth to be brittle and easy to break. Joints may also be very flexible
Inheritance
AR
FCI Number
148
GTP Breed
Dachshunds

BioBank AS

GTP Name
BioBank AS
Breed
Gene Name
SERPINH1
Mutation
c.977C>T; c.325delC

CAG GmbH Center for Animal Genetics

GTP Name
Center for Animal Genetics
Breed
GTP Disease Name
Brittle bone disease
Gene Name
SERPINH1
Mutation
c.325delC
Nature of test
mutation test
GTP- or Breed-Specific Publications
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 osteogene
Application in the Breed
Carriers may be bred to normal animals (N/oi x N/N) . Offspring should be tested before breeding. No breeding of two carriers (N/oi x N/oi) nor of affected animals (oi/oi) Causes bones and teeth to be brittle and easy to break. Joints may also be very flexible
Inheritance
AR
FCI Number
148
GTP Breed
Dachshunds

Certagen GmbH

GTP Name
Certagen GmbH
Breed
Gene Name
SERPINH1
Mutation
c.977C>T; c.325delC

CMSCH

GTP
GTP Name
CMSCH
Breed
Gene Name
SERPINH1
Mutation
c.977C>T; c.325delC

Embark

GTP
GTP Name
Embark
Breed
GTP Disease Name
Brittle bone disease
Gene Name
SERPINH1
Mutation
c.325delC
Nature of test
mutation test
GTP- or Breed-Specific Publications
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 osteogene
Application in the Breed
Carriers may be bred to normal animals (N/oi x N/N) . Offspring should be tested before breeding. No breeding of two carriers (N/oi x N/oi) nor of affected animals (oi/oi) Causes bones and teeth to be brittle and easy to break. Joints may also be very flexible
Inheritance
AR
FCI Number
148
GTP Breed
Dachshunds

EVG Diagnostics

GTP Name
EVG Molecular Diagnostics
Breed
Gene Name
SERPINH1
Mutation
c.977 T>C
Nature of test
mutation test
GTP- or Breed-Specific Publications
PLoS Genet. 2009 Jul; 5(7): e1000579.

Genoscoper Laboratories Oy

GTP Name
Genoscoper Laboratories Oy
Breed
GTP Disease Name
Brittle bone disease
Gene Name
SERPINH1
Mutation
c.977C>T
Nature of test
mutation test
FCI Number
148
GTP Breed
Dachshunds

INNO

GTP
GTP Name
INNO
Breed
Gene Name
SERPINH1
Mutation
c.977C>T; c.325delC

Laboratorios Labocor S.L.

GTP Name
Laboratorios Labocor S.L.
Breed
Gene Name
SERPINH1
Mutation
c.977C>T; c.325delC

Laboklin Gmbh & Co. KG

GTP Name
Laboklin Gmbh & Co. KG
Breed
GTP Disease Name
Brittle bone disease
Gene Name
SERPINH1
Mutation
c.977C>T
Nature of test
mutation test
GTP- or Breed-Specific Publications
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 osteogene
Application in the Breed
Carriers may be bred to normal animals (N/oi x N/N) . Offspring should be tested before breeding. No breeding of two carriers (N/oi x N/oi) nor of affected animals (oi/oi) Causes bones and teeth to be brittle and easy to break. Joints may also be very flexible
Inheritance
AR
FCI Number
148
GTP Breed
Dachshunds

Paw Print Genetics

GTP Name
Paw Print Genetics
Breed
GTP Disease Name
Brittle bone disease
Gene Name
SERPINH1
Mutation
Point Mutation
Nature of test
mutation test
FCI Number
148
GTP Breed
Dachshunds

PharmaDNA

GTP
GTP Name
PharmaDNA
Breed
Gene Name
SERPINH1
Mutation
c.977C>T; c.325delC

Progènes-ADN

GTP Name
Progenes ADN
Breed
Gene Name
SERPINH1
Mutation
c.977C>T; c.325delC

Veterinary Genetics Laboratory

GTP Name
Veterinary Genetics Laboratory
Breed
GTP Disease Name
Brittle bone disease
Gene Name
SERPINH1
Mutation
c.977C>T
Nature of test
mutation test
GTP- or Breed-Specific Publications
Drogemuller, C., Becker, D., Brunner, A., Haase, B., Kircher, P., Seeliger, F., Fehr, M., Baumann, U., Lindblad-Toh, K., Leeb, TD. A missense mutation in the SERPINH1 gene in Dachshunds with Osteogenesis Imperfecta. PLOS Genetics. 2009; 5(7): e1000579.
Application in the Breed
Carriers may be bred to normal animals (N/oi x N/N) . Offspring should be tested before breeding. No breeding of two carriers (N/oi x N/oi) nor of affected animals (oi/oi) Causes bones and teeth to be brittle and easy to break. Joints may also be very flexible
Inheritance
AR
FCI Number
148
GTP Breed
Dachshunds

VHL Genetics

GTP Name
VHL Genetics
Breed
Gene Name
SERPINH1
Mutation
c.977C>T; c.325delC

Wisdom Health (formerly Mars Veterinary)

GTP Name
Wisdom Health (formerly Mars Veterinary)
Breed
GTP Disease Name
Brittle bone disease
Gene Name
SERPINH1
Mutation
c.977C>T
Nature of test
mutation test
FCI Number
148
GTP Breed
Dachshunds

Zoolyx

GTP
GTP Name
Zoolyx
Breed
Gene Name
SERPINH1
Mutation
c.977C>T; c.325delC
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