OMIA 000683-9615 : Muscular hypertrophy (double muscling) in Canis lupus familiaris |
In other species:
cattle
,
pig
,
chicken
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 symbol:
"bully" whippets
Breed:
Whippet.
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| MSTN | myostatin | Canis lupus familiaris | 37 | NC_006619.3 (734255..729172) | MSTN | Homologene, Ensembl, NCBI gene |
Variants
By default, variants are sorted chronologically by year of publication, to provide a historical perspective.
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| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Whippet | Muscular hypertrophy (double muscling) | MSTN | deletion, small (<=20) | 37 | c.939_940delTG | p.C313* | a two-base-pair deletion in the third exon of MSTN leading to a premature stop codon at amino acid 313 | 2007 | 17530926 |
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.
| 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. | ||
| 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 | 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