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

In other species: cattle , pig , chicken , rabbit , goat , Japanese quail

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 601788 (gene) , 614160 (trait)

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_051841.1 (628235..623197) MSTN Homologene, Ensembl, NCBI gene

Variants

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
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.
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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.
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.
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