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
Symbol Description Species Position Other Links
SERPINH1 serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1) Canis lupus familiaris Chr21 : 23244497 - 23235602 Homologene, Ensembl, NCBI gene
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 .