GEPHE SUMMARY Print
Gephebase Gene
Myostatin (MSTN = GDF8)
Entry Status
Published
GepheID
GP00002248
Main curator
Martin
PHENOTYPIC CHANGE
Trait Category
Morphology
Trait
Muscular mass (double muscling)
Trait State in Taxon A
Bos taurus - Wagyu
Trait State in Taxon B
Bos taurus - Gelbvieh
Ancestral State
Taxon A
Taxonomic Status
Domesticated
Taxon A
Latin Name
Bos taurus
Common Name
cattle
Synonyms
Bos bovis; Bos primigenius taurus; cattle; bovine; cow; dairy cow; domestic cattle; domestic cow; Bos taurus Linnaeus, 1758; Bos Tauurus
Rank
species
Lineage
Show more ... a; Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Laurasiatheria; Artiodactyla; Ruminantia; Pecora; Bovidae; Bovinae; Bos
Parent
Bos (oxen, cattle) - (Rank: genus)
NCBI Taxonomy ID
9913
is Taxon A an Infraspecies?
Yes
Taxon A Description
Bos taurus - Wagyu
Taxon B
Latin Name
Bos taurus
Common Name
cattle
Synonyms
Bos bovis; Bos primigenius taurus; cattle; bovine; cow; dairy cow; domestic cattle; domestic cow; Bos taurus Linnaeus, 1758; Bos Tauurus
Rank
species
Lineage
Show more ... a; Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Laurasiatheria; Artiodactyla; Ruminantia; Pecora; Bovidae; Bovinae; Bos
Parent
Bos (oxen, cattle) - (Rank: genus)
NCBI Taxonomy ID
9913
is Taxon B an Infraspecies?
Yes
Taxon B Description
Bos taurus - Gelbvieh
GENOTYPIC CHANGE
Generic Gene Name
MSTN
Synonyms
GDF8; MSLHP
String
9606.ENSP00000260950
Sequence Similarities
Belongs to the TGF-beta family.
GO - Molecular Function
GO:0042802 : identical protein binding ... show more
GO - Biological Process
GO:0045893 : positive regulation of transcription, DNA-templated ... show more
GO - Cellular Component
GO:0005737 : cytoplasm ... show more
UniProtKB
Homo sapiens
O14793
GenebankID or UniProtKB
ACS70961
Presumptive Null
No
Molecular Type
Coding
Aberration Type
SNP
SNP Coding Change
Nonsynonymous
Molecular Details of the Mutation
c.191T>C p.L64P
Experimental Evidence
Candidate Gene
Taxon A Taxon B Position
Codon - - -
Amino-acid Leu Pro 64
Main Reference
A novel myostatin mutation in double-muscled German Gelbvieh. (2015)
Authors
Dierks C; Eder J; Glatzer S; Lehner S; Distl O
Abstract
-
Additional References
RELATED GEPHE
Related Genes
1 (MRC2)
Related Haplotypes
7
EXTERNAL LINKS
COMMENTS
@Parallelism @AllelicSeries https://omia.org/OMIA000683/9913/
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