OMIA 001200-9823 : Tremor, high-frequency in Sus scrofa |
Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
---|---|---|---|---|---|---|
MYH7 | myosin, heavy chain 7, cardiac muscle, beta | Sus scrofa | 7 | NC_010449.5 (75650841..75672908) | MYH7 | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
598 | Tremor, high-frequency (Campus syndrome) | MYH7 | insertion, small (<=20) | Naturally occurring variant | Sscrofa11.1 | 7 | g.75668349_75668350insGGCGGG | c.4320_4321insCCCGCC | p.(A1440_A1441insPA) | 2012 | 23153285 | The genomic location on Sscrofa10.2 was determined by Stephanie Shields (27/05/2020) and updated to the genomic Sscrofa11.1 location by Imke Tammen |
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.
2012 | Murgiano, L., Tammen, I., Harlizius, B., Drögemüller, C. : | |
A de novo germline mutation in MYH7 causes a progressive dominant myopathy in pigs. BMC Genet 13:99, 2012. Pubmed reference: 23153285. DOI: 10.1186/1471-2156-13-99. | ||
1999 | Tammen, I., Schulze, C., Chavez-Moreno, J., Waberski, D., Simon, D., Harlizius, B. : | |
Inheritance and genetic mapping of the Campus syndrome (CPS): A high-frequency tremor disease in pigs Journal of Heredity 90:472-476, 1999. Pubmed reference: 10485136. | ||
1997 | Wissel, J., Harlizuis, B., Richter, A., Loscher, W., Schelosky, L., Scholz, U., Poewe, W. : | |
A new tremor mutant in the pietrain pig - an animal model of orthostatic tremor - clinical and neurophysiological observations Movement Disorders 12:743-746, 1997. Pubmed reference: 9380058. DOI: 10.1002/mds.870120519. | ||
1996 | Schulze, C., Chavez, C., Harlizius, B., Pohlenz, J. : | |
Hereditary progressive postural tremor in the pig: morphologic and morphometric study of muscle alterations European Journal of Veterinary Pathology 2:5-12, 1996. | ||
Tammen, I., Harlizius, B. : | ||
A positional cloning study to identify the gene causing the 'Campus syndrome': a hereditary high frequency tremor in pigs Animal Genetics 27 (Suppl. 2):83 only, 1996. | ||
1995 | Richter, A., Wissel, J., Harlizius, B., Simon, D., Schelosky, L., Scholz, U., Poewe, W., Loscher, W. : | |
The campus syndrome in pigs - neurological, neurophysiological, and neuropharmacological characterization of a new genetic animal model of high-frequency tremor Experimental Neurology 134:205-213, 1995. Pubmed reference: 7556540. DOI: 10.1006/exnr.1995.1050. |
Edit History
- Created by Frank Nicholas on 06 Sep 2005
- Changed by Frank Nicholas on 18 Nov 2012
- Changed by Frank Nicholas on 23 Nov 2012