OMIA 001660-9615 : Myopathy, Great Dane in Canis lupus familiaris |
Possibly relevant human trait(s) and/or gene(s) (MIM number):
255200
Mendelian trait/disorder:
yes
Mode of inheritance:
Autosomal Recessive
Considered a defect:
yes
Key variant known:
yes
Year key variant first reported:
2013
Species-specific name:
Inherited myopathy of Great Danes
Species-specific symbol:
IMGD
Molecular basis:
In the course of investigating BIN1 mutations as a cause of centronuclear myopathy (CNM) in humans, Böhm et al. (2013) searched for potential animal models of CNM, and alighted upon Inherited Myopathy of Great Danes as a likely model. Having five affected dogs from Canada, USA and UK at their disposal, Böhm et al. (2013) identified a causal mutation as "a homozygous AG to GG substitution of the BIN1 exon 11 acceptor splice site in five dogs from Canada, US and UK (IVS10-2A>G". The authors also reported that "The BIN1 IVS10-2A>G mutation was not found in 112 healthy Great Danes and in 35 dogs from 12 other breeds, strongly suggesting its pathogenicity." However, they did note that "Some dogs of our IMGD cohort were found to be negative for BIN1 mutations, suggesting that IMGD encompasses several disorders with similar clinical and overlapping histopathological features".
Breed:
Great Dane.
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| BIN1 | bridging integrator 1 | Canis lupus familiaris | 19 | NC_006601.3 (23503934..23534407) | BIN1 | Homologene, Ensembl, NCBI gene |
Variants
By default, variants are sorted chronologically by year of publication, to provide a historical perspective.
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| 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