OMIA 001319-9913 : Myopathy of the diaphragmatic muscles in Bos taurus
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|HSPA1A||heat shock 70kDa protein 1A||Bos taurus||23||NC_037350.1 (27522790..27520317)||HSPA1A||Homologene, Ensembl, NCBI gene|
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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|
|919||Holstein-Friesian||Myopathy of the diaphragmatic muscles||HSPA1A||deletion, gross (>20)||Naturally occurring variant||23||Deletion of one of two HSP70 (heat-shock protein) genes in the bovine major histocompatibility complex||2003||12755819|
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.
|2003||Sugimoto, M., Furuoka, H., Sugimoto, Y. :|
|Deletion of one of the duplicated Hsp70 genes causes hereditary myopathy of diaphragmatic muscles in Holstein-Friesian cattle. Anim Genet 34:191-7, 2003. Pubmed reference: 12755819.|
|2001||Furuoka, H., Yagi, S., Murakami, A., Honma, A., Kobayashi, Y., Matsui, T., Miyahara, K., Taniyama, H. :|
|Hereditary dilated cardiomyopathy in Holstein-Friesian cattle in Japan: Association with hereditary myopathy of the diaphragmatic muscles Journal of Comparative Pathology 125:159-165, 2001. Pubmed reference: 11578132. DOI: 10.1053/jcpa.2001.0494.|
|1999||Furuoka, H., Murakami, A., Doi, T., Kobayashi, Y., Matsui, T., Nakamura, N. :|
|Immunohistochemical and electron microscopical studies of myocardial inclusions in hereditary myopathy of the diaphragmatic muscles in Holstein-Friesian cattle Acta Neuropathologica 97:185-191, 1999. Pubmed reference: 9928830.|
|Furuoka, H., Murakami, A., Tsuchihashi, M., Yokota, H., Doi, T., Kobayashi, Y., Matsui, T., Horiuchi, M., Taniyama, H. :|
|Immunohistochemical study of some cytoskeletal proteins in hereditary myopathy of the diaphragmatic muscles in Holstein-Friesian cattle Acta Neuropathologica 97:177-184, 1999. Pubmed reference: 9928829.|
|1995||Furuoka, H., Doi, T., Nakamura, N., Inada, I., Osame, S., Matsui, T. :|
|Hereditary myopathy of the diaphragmatic muscles in Holstein-Friesian cattle. 90:339-46, 1995. Pubmed reference: 8546024.|
- Created by Frank Nicholas on 05 Jun 2006
- Changed by Frank Nicholas on 09 Dec 2011
- Changed by Frank Nicholas on 21 Sep 2012