Gephebase

Gephebase Search Results

This Summary Table shows only the major fields for each entry. If you are interested in other fields (gene synonyms, GO terms, molecular details of the mutation, comments, etc.), please export the .csv file, which contains the complete data for each entry. Please click on a GepheID if you want to see all information regarding a particular entry.

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Your research retrieved 14 results.

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Gene	Trait	Mutation	Taxon B	Taxonomic Status	Evidence	Main Reference	Gephe ID	UniProtKB	Trait Category	Mutation Details	Taxon A	Taxon B	Edit Gene-GePhe	Taxon B	Status
Myostatin (MSTN = GDF8)	Muscular mass (double muscling)	Coding, Deletion N	Bos taurus cattle - (species) D	Domesticated	Linkage Mapping	Grobet L; Martin LJ; Poncelet D ; et al. (1997) A deletion in the bovine myostatin gene causes the double-muscled phenotype in cattle. 2 Additional References McPherron AC; Lee SJ (1997) Double muscling in cattle due to mutations in the myostatin gene. Kambadur R; Sharma M; Smith TP (1997) Mutations in myostatin (GDF8) in double-muscled Belgian Blue and Piedmontese cattle.	GP00000685	MSTN O14793	Morphology	nt821 11bp deletion c.821-831delTGAACACTCCA p.Glu275ArgfsX14 N	Bos taurus cattle - (species)	Bos taurus cattle - (species) D	Myostatin (MSTN = GDF8)	Bos taurus cattle - (species)	Published - Accepted by Curator
Myostatin (MSTN = GDF8)	Muscular mass (double muscling)	Coding, Indel N	Bos taurus cattle - (species) D	Domesticated	Candidate Gene	Grobet L; Poncelet D; Royo LJ ; et al. (1998) Molecular definition of an allelic series of mutations disrupting the myostatin function and causing[...]	GP00000686	MSTN O14793	Morphology	nt419 7bp deletion and 10bp insertion; leading to a premature stop codon at position 140 c.419_425del7, c418_426ins10 N	Bos taurus cattle - (species)	Bos taurus cattle - (species) D	Myostatin (MSTN = GDF8)	Bos taurus cattle - (species)	Published - Accepted by Curator
Myostatin (MSTN = GDF8)	Muscular mass (double muscling)	Coding, SNP N	Bos taurus cattle - (species) D	Domesticated	Candidate Gene	Grobet L; Poncelet D; Royo LJ ; et al. (1998) Molecular definition of an allelic series of mutations disrupting the myostatin function and causing[...]	GP00000687	MSTN O14793	Morphology	c.610C>T p.Q204* N	Bos taurus cattle - (species)	Bos taurus cattle - (species) D	Myostatin (MSTN = GDF8)	Bos taurus cattle - (species)	Published - Accepted by Curator
Myostatin (MSTN = GDF8)	Muscular mass (double muscling)	Coding, SNP N	Bos taurus cattle - (species) D	Domesticated	Candidate Gene	Grobet L; Poncelet D; Royo LJ ; et al. (1998) Molecular definition of an allelic series of mutations disrupting the myostatin function and causing[...]	GP00000688	MSTN O14793	Morphology	E226* caused by G676T N	Bos taurus cattle - (species)	Bos taurus cattle - (species) D	Myostatin (MSTN = GDF8)	Bos taurus cattle - (species)	Published - Accepted by Curator
Myostatin (MSTN = GDF8)	Muscular mass (double muscling)	Coding, SNP	Bos taurus cattle - (species) D	Domesticated	Candidate Gene	McPherron AC; Lee SJ (1997) Double muscling in cattle due to mutations in the myostatin gene. 2 Additional References Grobet L; Poncelet D; Royo LJ (1998) Molecular definition of an allelic series of mutations disrupting the myostatin function and causing[...] Kambadur R; Sharma M; Smith TP (1997) Mutations in myostatin (GDF8) in double-muscled Belgian Blue and Piedmontese cattle.	GP00000689	MSTN O14793	Morphology	C313Y caused by G938A; disrupts disulphide bond	Bos taurus cattle - (species)	Bos taurus cattle - (species) D	Myostatin (MSTN = GDF8)	Bos taurus cattle - (species)	Published - Accepted by Curator
Myostatin (MSTN = GDF8)	Muscular mass (double muscling)	Coding, SNP N	Bos taurus cattle - (species) D	Domesticated	Candidate Gene	Marchitelli C; Savarese MC; Crisà A ; et al. (2003) Double muscling in Marchigiana beef breed is caused by a stop codon in the third exon of myostatin g[...]	GP00000690	MSTN O14793	Morphology	E291* caused by G>T N	Bos taurus cattle - (species)	Bos taurus cattle - (species) D	Myostatin (MSTN = GDF8)	Bos taurus cattle - (species)	Published - Accepted by Curator
Myostatin (MSTN = GDF8)	Muscular mass (double muscling)	Coding, SNP	Bos taurus cattle - (species) D	Domesticated	Linkage Mapping	Alexander LJ; Kuehn LA; Smith TP ; et al. (2009) A Limousin specific myostatin allele affects longissimus muscle area and fatty acid profiles in a Wa[...]	GP00000692	MSTN O14793	Morphology	c.282C>A p.Phe94Leu	Bos taurus cattle - (species)	Bos taurus cattle - (species) D	Myostatin (MSTN = GDF8)	Bos taurus cattle - (species)	Published - Accepted by Curator
Myostatin (MSTN = GDF8)	Muscular mass (double muscling)	Coding, Deletion N	Ovis aries sheep - (species) D	Domesticated	Candidate Gene	Boman IA; Klemetsdal G; Blichfeldt T ; et al. (2009) A frameshift mutation in the coding region of the myostatin gene (MSTN) affects carcass conformation[...]	GP00000693	MSTN O14793	Morphology	1bp deletion resulting in a premature stop codon at position 320 N	Ovis aries sheep - (species)	Ovis aries sheep - (species) D	Myostatin (MSTN = GDF8)	Ovis aries sheep - (species)	Published - Accepted by Curator
Myostatin (MSTN = GDF8)	Muscular mass (double muscling)	Coding, Insertion N	Ovis aries sheep - (species) D	Domesticated	Candidate Gene	Boman IA; Våge DI (2009) An insertion in the coding region of the myostatin (MSTN) gene affects carcass conformation and fatn[...]	GP00000694	MSTN O14793	Morphology	1bp insertion resulting in premature stop codon at position 49 N	Ovis aries sheep - (species)	Ovis aries sheep - (species) D	Myostatin (MSTN = GDF8)	Ovis aries sheep - (species)	Published - Accepted by Curator
Myostatin (MSTN = GDF8)	Muscular mass (double muscling)	Cis-regulatory, SNP	Ovis aries sheep - (species)	Domesticated	Linkage Mapping	Clop A; Marcq F; Takeda H ; et al. (2006) A mutation creating a potential illegitimate microRNA target site in the myostatin gene affects musc[...]	GP00000695	MSTN O14793	Morphology	1bp change; generates binding site for two muscle-expressed miRNAs; causing mRNA degradation and lower levels of circulating myostatin G to A transition in the 3' UTR that creates a target site for mir1 and mir206 microRNAs	Ovis aries sheep - (species)	Ovis aries sheep - (species)	Myostatin (MSTN = GDF8)	Ovis aries sheep - (species)	Published - Accepted by Curator
Myostatin (MSTN = GDF8)	Muscular mass (double muscling)	Cis-regulatory, SNP	Sus scrofa domesticus domestic pig - (subspecies)	Domesticated	Candidate Gene	Stinckens A; Luyten T; Bijttebier J ; et al. (2008) Characterization of the complete porcine MSTN gene and expression levels in pig breeds differing in [...]	GP00000696	MSTN O14793	Morphology	Possible promoter disruption ; changes the G nucleotide at position 8 of the MEF3 binding site into an A nucleotide, thus disrupting the MEF3 binding site	Sus scrofa pig - (species)	Sus scrofa domesticus domestic pig - (subspecies)	Myostatin (MSTN = GDF8)	Sus scrofa domesticus domestic pig - (subspecies)	Published - Accepted by Curator
Myostatin (MSTN = GDF8)	Racing performance	Coding, Deletion N	Canis lupus familiaris dog - (subspecies) D	Domesticated	Candidate Gene	Mosher DS; Quignon P; Bustamante CD ; et al. (2007) A mutation in the myostatin gene increases muscle mass and enhances racing performance in heterozygo[...]	GP00000697	MSTN O14793	Morphology; Physiology	2bp deletion in the third exon c.939_940delTG p.C313* N	Canis lupus gray wolf - (species)	Canis lupus familiaris dog - (subspecies) D	Myostatin (MSTN = GDF8)	Canis lupus familiaris dog - (subspecies)	Published - Accepted by Curator
Myostatin (MSTN = GDF8)	Racing performance	Cis-regulatory, Insertion	Equus caballus horse - (species) D	Domesticated	Candidate Gene	Binns MM; Boehler DA; Lambert DH (2010) Identification of the myostatin locus (MSTN) as having a major effect on optimum racing distance in [...] 3 Additional References Petersen JL; Mickelson JR; Rendahl AK (2013) Genome-wide analysis reveals selection for important traits in domestic horse breeds. Tozaki T; Hill EW; Hirota K (2012) A cohort study of racing performance in Japanese Thoroughbred racehorses using genome information on[...] Rooney MF; Hill EW; Kelly VP (2018) The "speed gene" effect of myostatin arises in Thoroughbred horses due to a promoter proximal SINE i[...]	GP00000698	MSTN O14793	Morphology; Physiology	227-bp SINE insertion in promoter	Equus caballus horse - (species)	Equus caballus horse - (species) D	Myostatin (MSTN = GDF8)	Equus caballus horse - (species)	Published - Accepted by Curator
Myostatin (MSTN = GDF8)	Muscular mass (double muscling)	Coding, SNP	Bos taurus cattle - (species) D	Domesticated	Candidate Gene	Dierks C; Eder J; Glatzer S ; et al. (2015) A novel myostatin mutation in double-muscled German Gelbvieh.	GP00002248	MSTN O14793	Morphology	c.191T>C p.L64P	Bos taurus cattle - (species)	Bos taurus cattle - (species) D	Myostatin (MSTN = GDF8)	Bos taurus cattle - (species)	Published - Accepted by Curator