Muscular Hypertrophy
Breed: Whippet
Generic Phene Data
Breeds
Relevance Rating: There is some evidence or research available in this breed
General
Disease Name
Muscular Hypertrophy
OMIA
683
Gene Name
MSTN
Mutation
c.939_940delTG
Test Type
Other Genetic Traits
Details
Muscular Hypertrophy, also known as double muscling is caused by mutations in the myostatin (MSTN) gene. Dogs with one copy of the mutation are, on average, more muscular and significantly faster.
Details 2
Double muscling is a trait previously described in several mammalian species including cattle and sheep and is caused by mutations in the myostatin (MSTN) gene (previously referred to as GDF8). Here we describe a new mutation in MSTN found in the whippet dog breed that results in a double-muscled phenotype known as the "bully" whippet. Individuals with this phenotype carry two copies of a two-base-pair deletion in the third exon of MSTN leading to a premature stop codon at amino acid 313. Individuals carrying only one copy of the mutation are, on average, more muscular than wild-type individuals (p = 7.43 x 10(-6); Kruskal-Wallis Test) and are significantly faster than individuals carrying the wild-type genotype in competitive racing events (Kendall's nonparametric measure, tau = 0.3619; p approximately 0.00028). These results highlight the utility of performance-enhancing polymorphisms, marking the first time a mutation in MSTN has been quantitatively linked to increased athletic performance. (Mosher et al, 2007)
Patents/ Licences
EP1002068 B1 lapsed
Published
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.
Published 2
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.
Body/System/Process
Muscular
OMIA Url
Inheritance
AD
Breed Specific Info
Researched Breeds
Whippet
HSP Test-Specific Data
Agrotis S.r.l.
GTP
GTP Name
Agrotis S.r.l.
Breed
OMIA
Gene Name
MSTN
Mutation
c.939_940delTG
Antagene
GTP
GTP Name
Antagene
Breed
OMIA
GTP Disease Name
Muscular hypertrophy (double muscling)
GTP Disease Synonym
"Bully" Whippet, Myostatin Mutation
Gene Name
MSTN
Mutation
c.939_940delTG
Nature of test
mutation test
GTP- or Breed-Specific Publications
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 heteroz
Application in the Breed
Mildly affected animals may be bred to normal animals (N/mh x N/N) . No breeding of two mildly affected dogs (N/mh x N/mh) nor of affected animals (af/af). Heterozygote animals muscled more heavily - with two copies have such enlarged muscles (bully whippets)
Inheritance
AD*
FCI Number
162
GTP Breed
Whippet
BioBank AS
GTP
GTP Name
BioBank AS
Breed
OMIA
Gene Name
MSTN
Mutation
c.939_940delTG
Certagen GmbH
GTP
GTP Name
Certagen GmbH
Breed
OMIA
Gene Name
MSTN
Mutation
c.939_940delTG
CMSCH
GTP
GTP Name
CMSCH
Breed
OMIA
Gene Name
MSTN
Mutation
c.939_940delTG
EVG Diagnostics
GTP
GTP Name
EVG Molecular Diagnostics
Breed
OMIA
Gene Name
MSTN
Mutation
c.939_940delTG
Genomia s.r.o
GTP
GTP Name
Genomia s.r.o
Breed
OMIA
GTP Disease Name
Muscular hypertrophy (double muscling)
Gene Name
MSTN
Mutation
c.939_940delTG
Mutation Comment
g.729362_729363del
INNO
GTP
GTP Name
INNO
Breed
OMIA
Gene Name
MSTN
Mutation
c.939_940delTG
Laboratorios Labocor S.L.
GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
MSTN
Mutation
c.939_940delTG
Laboklin Gmbh & Co. KG
GTP
GTP Name
Laboklin Gmbh & Co. KG
Breed
OMIA
GTP Disease Name
Muscular hypertrophy (double muscling)
GTP Disease Synonym
"Bully" Whippet, Myostatin Mutation
Gene Name
MSTN
Mutation
c.939_940delTG
Nature of test
mutation test
GTP- or Breed-Specific Publications
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 heteroz
Application in the Breed
Mildly affected animals may be bred to normal animals (N/mh x N/N) . No breeding of two mildly affected dogs (N/mh x N/mh) nor of affected animals (af/af). Heterozygote animals muscled more heavily - with two copies have such enlarged muscles (bully whippets)
Inheritance
AD*
FCI Number
162
GTP Breed
Whippet
PharmaDNA
GTP
GTP Name
PharmaDNA
Breed
OMIA
Gene Name
MSTN
Mutation
c.939_940delTG
Progènes-ADN
GTP
GTP Name
Progenes ADN
Breed
OMIA
Gene Name
MSTN
Mutation
c.939_940delTG
VHL Genetics
GTP
GTP Name
VHL Genetics
Breed
OMIA
Gene Name
MSTN
Mutation
c.939_940delTG
Wisdom Panel - Kinship
GTP
GTP Name
Wisdom Panel - Kinship
Breed
OMIA
GTP Disease Name
Muscular hypertrophy (double muscling)
GTP Disease Synonym
"Bully" Whippet, Myostatin Mutation
Gene Name
MSTN
Mutation
c.939_940delTG
Nature of test
mutation test
GTP- or Breed-Specific Publications
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 heteroz
Application in the Breed
Mildly affected animals may be bred to normal animals (N/mh x N/N) . No breeding of two mildly affected dogs (N/mh x N/mh) nor of affected animals (af/af). Heterozygote animals muscled more heavily - with two copies have such enlarged muscles (bully whippets)
Inheritance
AD*
FCI Number
162
GTP Breed
Whippet
Zoolyx
GTP
GTP Name
Zoolyx
Breed
OMIA
Gene Name
MSTN
Mutation
c.939_940delTG