The detail information of Osteogenesis imperfecta, SERPINH1-related
OMIA Basic Information
Possible human homologues (MIM numbers):
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal Recessive
Considered a defect: yes
Year key mutation first reported: 2009
Species-specific name: -
Species-specific symbol: -
More detail information can see in
Associated Breeds
iDog Breed Number | Breed Name | Personality | Height | Weight | History | Breed Source |
---|---|---|---|---|---|---|
CB83 | Dachshund | 20.3-22.9 cm (standard), 12.7-15.2 cm (miniature) | 7.3-14.5 kg (standard), 5 kg & under (miniature) | Germany |
Associated Gene
There are no associated genes.
References
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
2015 |
Lindert,U.,Weis,M.A.,Rai,J.,Seeliger,F.,Hausser,I.,Leeb,T.,Eyre,D.,Rohrbach,M.,Giunta,C.: :
Molecular Consequences of the SERPINH1/HSP47 Mutation in the Dachshund Natural Model of Osteogenesis Imperfecta. J Biol Chem 290:17679-89, 2015. Pubmed reference: 26004778 . DOI: 10.1074/jbc.M115.661025 . |
2013 |
Eckardt,J.,Kluth,S.,Dierks,C.,Philipp,U.,Distl,O.: :
Osteogenesis imperfecta in dachshunds. J. Eckardt, S. Kluth, C. Dierks, U. Philipp and O. Distl comment. Vet Rec 172:319, 2013. Pubmed reference: 23525818 . DOI: 10.1136/vr.f1870 . |
2013 |
Eckardt,J.,Kluth,S.,Dierks,C.,Philipp,U.,Distl,O.: :
Population screening for the mutation associated with osteogenesis imperfecta in dachshunds. Vet Rec 172:364, 2013. Pubmed reference: 23315765 . DOI: 10.1136/vr.101122 . |
2013 |
Schütz,E.,Brenig,B.,Scharfenstein,M.,Drögemüller,C.,Leeb,T.: :
Osteogenesis imperfecta in dachshunds. Vet Rec 172:319, 2013. Pubmed reference: 23525816 . DOI: 10.1136/vr.f1823 . |
2012 |
Abitbol,M.: :
[DNA testing for osteogenesis imperfecta in the Dachshund.] Point Veterinaire 43:6-7, 2012. |
2012 |
Schutz,E.,Drogemuller,C.,Scharfenstein,M.,Brenig,B.: :
[Osteogenesis imperfecta in the Dachshund]. Kleintierpraxis 57:57-62, 2012. |
2012 |
Widmer,C.,Gebauer,J.M.,Brunstein,E.,Rosenbaum,S.,Zaucke,F.,Drögemüller,C.,Leeb,T.,Baumann,U.: :
Molecular basis for the action of the collagen-specific chaperone Hsp47/SERPINH1 and its structure-specific client recognition. Proc Natl Acad Sci U S A 109:13243-7, 2012. Pubmed reference: 22847422 . DOI: 10.1073/pnas.1208072109 . |
2009 |
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 . |
2003 |
Seeliger,F.,Leeb,T.,Peters,M.,Brugmann,M.,Fehr,M.,Hewicker-Trautwein,M.: :
Osteogenesis imperfecta in two litters of dachshunds. Vet Pathol 40:530-9, 2003. Pubmed reference: 12949410 . |