OMIA 000683-9823 : Muscular hypertrophy (double muscling) in Sus scrofa

In other species: cattle , dog , chicken

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal

Considered a defect: no

Key variant known: yes

Year key variant first reported: 2008

Cross-species summary: Abnormal increase in muscular tissue caused entirely by enlargement of existing cells (in contrast to muscular hyperplasia, in which the abnormal increase in muscular tissue is due to the formation and growth of new, normal muscle cells)

Species-specific description: Papers by Qian et al. (2015), Wang et al. (2016) and Bi et al. (2016) report the creation of genetically-modified organisms (GMO).

Molecular basis: On the very reasonable assumption that the muscular hypertrophy of Pietrain pigs is homologous to the double-muscling trait of certain cattle breeds (especially the Belgian Blue) caused by mutations in the MSTN gene, Stinckens et al. (2008) cloned and sequenced the porcine MSTN gene, and discovered a likely causal mutation, namely g.447A>G in the promoter which "changes the G nucleotide at position 8 of the MEF3 binding site into an A nucleotide, thus disrupting the MEF3 binding site".

Associated gene:

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.

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
Muscular hypertrophy (double muscling) MSTN regulatory EF490986-EF490990 g.447A>G 2008 18822098


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.
2018 Aiello, D., Patel, K., Lasagna, E. :
The myostatin gene: an overview of mechanisms of action and its relevance to livestock animals. Anim Genet :, 2018. Pubmed reference: 30125951. DOI: 10.1111/age.12696.
2016 Bi, Y., Hua, Z., Liu, X., Hua, W., Ren, H., Xiao, H., Zhang, L., Li, L., Wang, Z., Laible, G., Wang, Y., Dong, F., Zheng, X. :
Isozygous and selectable marker-free MSTN knockout cloned pigs generated by the combined use of CRISPR/Cas9 and Cre/LoxP. Sci Rep 6:31729, 2016. Pubmed reference: 27530319. DOI: 10.1038/srep31729.
Wang, K., Tang, X., Liu, Y., Xie, Z., Zou, X., Li, M., Yuan, H., Ouyang, H., Jiao, H., Pang, D. :
Efficient Generation of Orthologous Point Mutations in Pigs via CRISPR-assisted ssODN-mediated Homology-directed Repair. Mol Ther Nucleic Acids 5:e396, 2016. Pubmed reference: 27898095. DOI: 10.1038/mtna.2016.101.
2015 Qian, L., Tang, M., Yang, J., Wang, Q., Cai, C., Jiang, S., Li, H., Jiang, K., Gao, P., Ma, D., Chen, Y., An, X., Li, K., Cui, W. :
Targeted mutations in myostatin by zinc-finger nucleases result in double-muscled phenotype in Meishan pigs. Sci Rep 5:14435, 2015. Pubmed reference: 26400270. DOI: 10.1038/srep14435.
2011 Stinckens, A., Georges, M., Buys, N. :
Mutations in the myostatin gene leading to hypermuscularity in mammals: indications for a similar mechanism in fish? Anim Genet 42:229-34, 2011. Pubmed reference: 21175702. DOI: 10.1111/j.1365-2052.2010.02144.x.
2008 Stinckens, A., Luyten, T., Bijttebier, J., Van den Maagdenberg, K., Dieltiens, D., Janssens, S., De Smet, S., Georges, M., Buys, N. :
Characterization of the complete porcine MSTN gene and expression levels in pig breeds differing in muscularity. Anim Genet 39:586-96, 2008. Pubmed reference: 18822098. DOI: 10.1111/j.1365-2052.2008.01774.x.
2007 Guimaraes, S.E.F., Stahl, C.H., Lonergan, S.M., Geiger, B., Rothschild, M.F. :
Myostatin promoter analysis and expression pattern in pigs. Livestock Science 112:143–150, 2007.
2005 Stinckens, A., Bijttebier, J., Luyten, T., Van den Maagdenberg, K., Harmegnies, N., De Smet, S., Georges, M., Buys, N. :
Detection of polymorphisms in the myostatin gene in Belgian Pietrain pigs. Commun Agric Appl Biol Sci 70:37-41, 2005. Pubmed reference: 16366271.
1980 Ollivier, L. :
Genetic determination of muscular hypertrophy in the pig Annales de Genetique et de Selection Animale 12:383-394, 1980.
1967 Ollivier, L., Lauvergne, J.J. :
[A study of the inheritance of the muscular hypertrophy of the Pietrain pig: preliminary results] Annales de Medecine Veterinaire 111:104-109, 1967.

Edit History

  • Created by Frank Nicholas on 15 Jul 2011
  • Changed by Frank Nicholas on 08 Oct 2011
  • Changed by Frank Nicholas on 09 Dec 2011
  • Changed by Frank Nicholas on 03 Dec 2013
  • Changed by Frank Nicholas on 01 Dec 2016