OMIA:000683-9615 : Muscular hypertrophy (double muscling) in Canis lupus familiaris (dog)

In other species: Japanese flounder , rock pigeon , chicken , pig , taurine cattle , goat , sheep , rabbit , water buffalo , Japanese quail , yellow catfish

Categories: Muscle phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 601788 (gene) , 614160 (trait)

Links to relevant human diseases in MONDO:

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal

Considered a defect: no

Key variant known: yes

Year key variant first reported: 2007

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 name: Hypermuscularity; gross muscle hypertrophy; 'bully' whippets

Species-specific description: In addition to the occurrence of natural variants for this trait, variants have been created artificially (e.g. Zou et al., 2015): Genetically-modifed organism; GMO.

Genetic engineering: Yes - in addition to the occurrence of natural variants, variants have been created artificially, e.g. by genetic engineering or gene editing
Have human generated variants been created, e.g. through genetic engineering and gene editing

Clinical features: Affected dogs show an unusual amount of muscularity, especially in the neck and legs. They are broad chested and typically don’t conform to the breed standard (slim, long neck, pointed snout) (Mosher et al., 2007). Dogs with a single copy of the mutation show a smaller degree of hypermuscularity are significantly faster than homozygous wild-type whippets (Mosher et al., 2007). Hence, being heterozygous for the mutation is considered performance enhancing. For whippets with a double copy of the mutation, there is little evidence about potential associated health risks. It has been anecdotally reported amongst breeders that affected whippets are otherwise generally healthy and only suffer from occasional muscle cramps and a distinctive overbite (Mosher et al., 2007). IT thanks DVM student Lucas Anderson, who provided the basis of this contribution in May 2023.

Breed: Whippet (Dog) (VBO_0201421).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
MSTN myostatin Canis lupus familiaris 37 NC_051841.1 (628235..623197) 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 Year Published PubMed ID(s) Acknowledgements
470 Whippet (Dog) Muscular hypertrophy (double muscling) MSTN deletion, small (<=20) Naturally occurring variant CanFam3.1 37 g.729362_729363del c.939_940delTG p.(C313*) NM_001002959.1; NP_001002959.1; published as c.939_940delTG; genomic coordinates in accordance with HGVS 3'-rule 2007 17530926 Genomic coordinates in CanFam3.1 provided by Zoe Shmidt and Robert Kuhn.

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:000683-9615: Online Mendelian Inheritance in Animals (OMIA) [dataset].


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 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.
2018 Aiello, D., Patel, K., Lasagna, E. :
The myostatin gene: an overview of mechanisms of action and its relevance to livestock animals. Anim Genet 49:505-19, 2018. Pubmed reference: 30125951. DOI: 10.1111/age.12696.
2015 Zou, Q., Wang, X., Liu, Y., Ouyang, Z., Long, H., Wei, S., Xin, J., Zhao, B., Lai, S., Shen, J., Ni, Q., Yang, H., Zhong, H., Li, L., Hu, M., Zhang, Q., Zhou, Z., He, J., Yan, Q., Fan, N., Zhao, Y., Liu, Z., Guo, L., Huang, J., Zhang, G., Ying, J., Lai, L., Gao, X. :
Generation of gene-target dogs using CRISPR/Cas9 system. J Mol Cell Biol 7:580-3, 2015. Pubmed reference: 26459633. DOI: 10.1093/jmcb/mjv061.
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.
2007 Lee, S.J. :
Sprinting without myostatin: a genetic determinant of athletic prowess. Trends Genet 23:475-7, 2007. Pubmed reference: 17884234. DOI: 10.1016/j.tig.2007.08.008.
Mosher, DS., Quignon, P., Bustamante, CD., Sutter, NB., Mellersh, CS., Parker, HG., Ostrander, EA. :
A mutation in the myostatin gene increases muscle mass and enhances racing performance in heterozygote dogs. PLoS Genet 3:e79, 2007. Pubmed reference: 17530926. DOI: 10.1371/journal.pgen.0030079.
Shelton, GD., Engvall, E. :
Gross muscle hypertrophy in whippet dogs is caused by a mutation in the myostatin gene. Neuromuscul Disord 17:721-2, 2007. Pubmed reference: 17651971. DOI: 10.1016/j.nmd.2007.06.008.

Edit History

  • Created by Frank Nicholas on 15 Jul 2011
  • Changed by Frank Nicholas on 28 Sep 2011
  • Changed by Frank Nicholas on 12 Dec 2011
  • Changed by Frank Nicholas on 05 Dec 2012
  • Changed by Imke Tammen2 on 12 Sep 2022
  • Changed by Imke Tammen2 on 11 May 2023
  • Changed by Imke Tammen2 on 12 Dec 2023