OMIA 001660-9615 : Myopathy, Great Dane in Canis lupus familiaris |
Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
---|---|---|---|---|---|---|
BIN1 | bridging integrator 1 | Canis lupus familiaris | 19 | NC_051823.1 (24808041..24860795) | BIN1 | 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.
Breed(s) | Variant Phenotype | Gene | Allele | Type of Variant | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Year Published | PubMed ID(s) | Acknowledgements |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Great Dane | Myopathy, Great Dane | BIN1 | splicing | IVS10-2A>G | 2013 | 23754947 |
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.
2013 | Böhm, J., Vasli, N., Maurer, M., Cowling, B., Shelton, G.D., Kress, W., Toussaint, A., Prokic, I., Schara, U., Anderson, T.J., Weis, J., Tiret, L., Laporte, J. : | |
Altered Splicing of the BIN1 Muscle-Specific Exon in Humans and Dogs with Highly Progressive Centronuclear Myopathy. PLoS Genet 9:e1003430, 2013. Pubmed reference: 23754947. DOI: 10.1371/journal.pgen.1003430. | ||
2010 | Chang, K.C., McCulloch, M.L., Anderson, T.J. : | |
Molecular and cellular insights into a distinct myopathy of Great Dane dogs. Vet J 183:322-7, 2010. Pubmed reference: 19135395. DOI: 10.1016/j.tvjl.2008.11.013. | ||
2008 | Davies, S.E., Davies, D.R., Richards, R.B., Bruce, W.J. : | |
Inherited myopathy in a Great Dane. Aust Vet J 86:43-5, 2008. Pubmed reference: 18271825. DOI: 10.1111/j.1751-0813.2007.00202.x. | ||
2006 | Lujan Feliu-Pascual, A., Lujan Feliu-Pascual, A., Shelton, G.D., Targett, M.P., Long, S.N., Comerford, E.J., McMillan, C., Davies, D., Rusbridge, C., Mellor, D., Chang, K.C., Anderson, T.J. : | |
Inherited myopathy of great Danes. J Small Anim Pract 47:249-54, 2006. Pubmed reference: 16674719. DOI: 10.1111/j.1748-5827.2006.00073.x. | ||
McMillan, C.J., Taylor, S.M., Shelton, G.D. : | ||
Inherited myopathy in a young Great Dane. Can Vet J 47:891-3, 2006. Pubmed reference: 17017655. | ||
1987 | Newsholme, S.J., Gaskell, C.J. : | |
Myopathy with core-like structures in a dog. J Comp Pathol 97:597-600, 1987. Pubmed reference: 3680647. |
Edit History
- Created by Frank Nicholas on 26 Oct 2011
- Changed by Frank Nicholas on 28 Jun 2013