OMIA 001483-9615 : Osteogenesis imperfecta, SERPINH1-related in Canis lupus familiaris |
Eckardt et al. (2013) reported the results of genotyping 1352 Dachshunds from 12 European countries for the causative mutation: "The overall frequency of OI [osteogenesis imperfecta] carriers was 12.9 per cent. Across all different size varieties, the SERPINH1 mutation was over-represented in wire-haired dachshunds with 17.3 per cent OI carriers. Among the different countries, the proportion of OI carriers was highest in Germany with 20.4 per cent." As noted by Schütz et al. (2013), this estimate is consistent with the allele-frequency estimate of Schütz et al. (2012).
Breed: Dachshund. Associated gene:Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
---|---|---|---|---|---|---|
SERPINH1 | serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1) | Canis lupus familiaris | 21 | NC_051825.1 (23244497..23235602) | SERPINH1 | Homologene, Ensembl, NCBI gene |
Variants
By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.
WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
OMIA Variant ID | Breed(s) | Variant Phenotype | Gene | Allele | Type of Variant | Source of Genetic Variant | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Inferred EVA rsID | Year Published | PubMed ID(s) | Acknowledgements |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
25 | Dachshund | Osteogenesis imperfecta_Dachshund | SERPINH1 | missense | Naturally occurring variant | CanFam3.1 | 21 | g.23033735A>G | c.977T>C | p.(L326P) | 2009 | 19629171 | Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool |
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. : | |
Population screening for the mutation associated with osteogenesis imperfecta in dachshunds. Vet Rec 172:364, 2013. Pubmed reference: 23315765. DOI: 10.1136/vr.101122. | ||
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. | ||
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. | ||
Schütz, E., Drögemüller, C., Scharfenstein, M., Brenig, B. : | ||
[Osteogenesis imperfecta in the Dachshund]. Kleintierpraxis 57:57-62, 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 | Drögemüller, 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. |
Edit History
- Created by Frank Nicholas on 24 Feb 2010
- Changed by Tosso Leeb on 01 Sep 2011
- Changed by Frank Nicholas on 02 Sep 2011
- Changed by Frank Nicholas on 28 Sep 2011
- Changed by Frank Nicholas on 12 Dec 2011
- Changed by Frank Nicholas on 17 Jan 2013
- Changed by Tosso Leeb on 19 Apr 2013
- Changed by Frank Nicholas on 23 Apr 2013
- Changed by Tosso Leeb on 07 Aug 2015
- Changed by Frank Nicholas on 13 Jul 2017
- Changed by Imke Tammen2 on 22 May 2022