OMIA:000683-9615 : Muscular hypertrophy (double muscling) in Canis lupus familiaris
Categories: Muscle phene
Links to MONDO diseases:
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.
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.
|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|
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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|
|470||Whippet||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
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.|
- 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