OMIA 002161-9823 : Leg weakness, MSTN-related in Sus scrofa
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|MSTN||myostatin||Sus scrofa||15||NC_010457.5 (94628440..94623526)||MSTN||Homologene, Ensembl, NCBI gene|
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|
|1019||Large White||Leg weakness, MSTN-related||MSTN||nonsense (stop-gain)||Naturally occurring variant||Sscrofa11.1||15||g.94623834C>A||c.820G>T||p.(E274*)||2019||30699111|
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.
|2021||Derks, M.F.L., Steensma, M. :|
|Review: Balancing selection for deleterious alleles in livestock. Front Genet 12:761728, 2021. Pubmed reference: 34925454. DOI: 10.3389/fgene.2021.761728.|
|Omosule, C.L., Phillips, C.L. :|
|Deciphering myostatin's regulatory, metabolic, and developmental influence in skeletal diseases. Front Genet 12:662908, 2021. Pubmed reference: 33854530. DOI: 10.3389/fgene.2021.662908.|
|2020||Li, W., Li, R., Wei, Y., Meng, X., Wang, B., Zhang, Z., Wu, W., Liu, H. :|
|Effect of MSTN mutation on growth and carcass performance in Duroc x Meishan hybrid population. Animals (Basel) 10:, 2020. Pubmed reference: 32481564. DOI: 10.3390/ani10060932.|
|2019||Matika, O., Robledo, D., Pong-Wong, R., Bishop, S.C., Riggio, V., Finlayson, H., Lowe, N.R., Hoste, A.E., Walling, G.A., Del Pozo, J., Archibald, A.L., Woolliams, J.A., Houston, R.D. :|
|Balancing selection at a premature stop mutation in the myostatin gene underlies a recessive leg weakness syndrome in pigs. PLoS Genet 15:e1007759, 2019. Pubmed reference: 30699111. DOI: 10.1371/journal.pgen.1007759.|
- Created by Frank Nicholas on 01 Feb 2019
- Changed by Frank Nicholas on 01 Feb 2019