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 73 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
ABCG2	Milk yield	Coding, SNP	Bos taurus cattle - (species)	Domesticated	Linkage Mapping	Cohen-Zinder M; Seroussi E; Larkin DM ; et al. (2005) Identification of a missense mutation in the bovine ABCG2 gene with a major effect on the QTL on chr[...] 1 Additional References Olsen HG; Nilsen H; Hayes B (2007) Genetic support for a quantitative trait nucleotide in the ABCG2 gene affecting milk composition of [...]	GP00000015	Abcg2 Q7TMS5	Physiology	Tyr581Ser	Bos taurus cattle - (species)	Bos taurus cattle - (species)	ABCG2	Bos taurus cattle - (species)	Published - Accepted by Curator
aggrecan	Body size (dwarfism)	Coding, Insertion N	Bos taurus cattle - (species) D	Domesticated	Linkage Mapping	Cavanagh JA; Tammen I; Windsor PA ; et al. (2007) Bulldog dwarfism in Dexter cattle is caused by mutations in ACAN.	GP00002140	ACAN P16112	Morphology	2266_2267insGGCA mutation introduces a frameshift and a premature termination codon into exon 11; the frameshift occurs at amino acid position 756 ; the termination codon occurs at position 914 compared to the normal aggrecan product of 2327 amino acids N	Bos taurus cattle - (species)	Bos taurus cattle - (species) D	aggrecan	Bos taurus cattle - (species)	Published - Accepted by Curator
aggrecan	Body size (dwarfism)	Cis-regulatory, SNP N	Bos taurus cattle - (species) D	Domesticated	Linkage Mapping	Cavanagh JA; Tammen I; Windsor PA ; et al. (2007) Bulldog dwarfism in Dexter cattle is caused by mutations in ACAN.	GP00002141	ACAN P16112	Morphology	−198C>T transition predicted to introduce a new ATG start codon 199 bp upstream of the normal start codon N	Bos taurus cattle - (species)	Bos taurus cattle - (species) D	aggrecan	Bos taurus cattle - (species)	Published - Accepted by Curator
Agouti	Coloration (coat)	Cis-regulatory, Insertion	Bos taurus cattle - (species) D	Domesticated	Candidate Gene	Girardot M; Guibert S; Laforet MP ; et al. (2006) The insertion of a full-length Bos taurus LINE element is responsible for a transcriptional deregula[...]	GP00000059	Asip Q03288	Morphology	LINE element insertion in 5' region of gene; over expression of alternative splice forms	Bos taurus cattle - (species)	Bos taurus cattle - (species) D	Agouti	Bos taurus cattle - (species)	Published - Accepted by Curator
ARHGAP15	Pathogen resistance (Trypanosoma)	Coding, SNP	Bos taurus cattle - (species) D	Domesticated	Linkage Mapping	Noyes H; Brass A; Obara I ; et al. (2011) Genetic and expression analysis of cattle identifies candidate genes in pathways responding to Trypa[...]	GP00000103	Arhgap15 Q811M1	Physiology	H282P	Bos taurus cattle - (species)	Bos taurus cattle - (species) D	ARHGAP15	Bos taurus cattle - (species)	Published - Accepted by Curator
BCO2 = beta-carotene oxygenase 2	Carotenoid content (yellow serum)	Coding, SNP N	Bos taurus cattle - (species) D	Domesticated	Linkage Mapping	Berry SD; Davis SR; Beattie EM ; et al. (2009) Mutation in bovine beta-carotene oxygenase 2 affects milk color. 1 Additional References Tian R; Pitchford WS; Morris CA (2010) Genetic variation in the beta, beta-carotene-9', 10'-dioxygenase gene and association with fat colou[...]	GP00000138	BCO2 Q9BYV7	Physiology	c.306G>A ; p.W102* N	Bos taurus cattle - (species)	Bos taurus cattle - (species) D	BCO2 = beta-carotene oxygenase 2	Bos taurus cattle - (species)	Published - Accepted by Curator
beta-casein	Milk protein content (casein)	Coding, SNP	Bos taurus cattle - (species) D	Domesticated	Linkage Mapping	Gallinat JL; Qanbari S; Drögemüller C ; et al. (2013) DNA-based identification of novel bovine casein gene variants.	GP00002025	CSN2 P02666	Physiology	g.87181619A>C c.245A>C p.H82P CAT>CCT	Bos taurus cattle - (species)	Bos taurus cattle - (species) D	beta-casein	Bos taurus cattle - (species)	Published - Accepted by Curator
CEP55	Recombination rate (female)	Unknown, Unknown	Bos taurus cattle - (species)	Domesticated	Association Mapping	Ma L; O'Connell JR; VanRaden PM ; et al. (2015) Cattle Sex-Specific Recombination and Genetic Control from a Large Pedigree Analysis.	GP00001667	CEP55 E1B8M0	Physiology	Associated SNP located near the gene	Bos taurus cattle - (species)	Bos taurus cattle - (species)	CEP55	Bos taurus cattle - (species)	Published - Accepted by Curator
coatomer protein complex subunit alpha (COPA)	Coloration (coat)	Coding, SNP	Bos taurus cattle - (species) D	Domesticated	Linkage Mapping	Dorshorst B; Henegar C; Liao X ; et al. (2015) Dominant Red Coat Color in Holstein Cattle Is Associated with a Missense Mutation in the Coatomer Pr[...]	GP00001329	COPA P53621	Morphology	c.C>T p.Arg160Cys	Bos taurus cattle - (species)	Bos taurus cattle - (species) D	coatomer protein complex subunit alpha (COPA)	Bos taurus cattle - (species)	Published - Accepted by Curator
CPLX1	Recombination rate	Unknown, Unknown	Bos taurus cattle - (species)	Domesticated	Association Mapping	Ma L; O'Connell JR; VanRaden PM ; et al. (2015) Cattle Sex-Specific Recombination and Genetic Control from a Large Pedigree Analysis.	GP00001659	CPLX1 Q0IIL7	Physiology	On chromosome 6. Associated SNP in the intron of the gene	Bos taurus cattle - (species)	Bos taurus cattle - (species)	CPLX1	Bos taurus cattle - (species)	Published - Accepted by Curator
diacylglycerol acyltransferase 1 (DGAT1)	Milk fat content	Coding, SNP	Bos taurus cattle - (species)	Domesticated	Linkage Mapping	Grisart B; Coppieters W; Farnir F ; et al. (2002) Positional candidate cloning of a QTL in dairy cattle: identification of a missense mutation in the [...] 1 Additional References Grisart B; Farnir F; Karim L (2004) Genetic and functional confirmation of the causality of the DGAT1 K232A quantitative trait nucleotid[...]	GP00000222	Dgat1 Q9Z2A7	Physiology	K232A	Bos taurus cattle - (species)	Bos taurus cattle - (species)	diacylglycerol acyltransferase 1 (DGAT1)	Bos taurus cattle - (species)	Published - Accepted by Curator
FMN1	Recombination rate	Unknown, Unknown	Bos taurus cattle - (species)	Domesticated	Association Mapping	Ma L; O'Connell JR; VanRaden PM ; et al. (2015) Cattle Sex-Specific Recombination and Genetic Control from a Large Pedigree Analysis.	GP00001662	FMN1 Q68DA7	Physiology	On chromosome 10. Associated SNP located upstream of the gene	Bos taurus cattle - (species)	Bos taurus cattle - (species)	FMN1	Bos taurus cattle - (species)	Published - Accepted by Curator
GCLM	Recombination rate	Unknown, Unknown	Bos taurus cattle - (species)	Domesticated	Association Mapping	Ma L; O'Connell JR; VanRaden PM ; et al. (2015) Cattle Sex-Specific Recombination and Genetic Control from a Large Pedigree Analysis.	GP00001664	GCLM Q2T9Y6	Physiology	On chromosome 3. Associated SNP upstream of the gene	Bos taurus cattle - (species)	Bos taurus cattle - (species)	GCLM	Bos taurus cattle - (species)	Published - Accepted by Curator
GH	Body size (dwarfism)	Coding, SNP	Bos taurus cattle - (species) D	Domesticated	Candidate Gene	McCormack BL; Chase CC; Olson TA ; et al. (2009) A miniature condition in Brahman cattle is associated with a single nucleotide mutation within the g[...]	GP00002037	GH1 P01241	Morphology	g.48768780C>T c.593C>T p.T198M	Bos taurus cattle - (species)	Bos taurus cattle - (species) D	GH	Bos taurus cattle - (species)	Published - Accepted by Curator
Growth Hormone Receptor	Milk yield	Coding, SNP	Bos taurus cattle - (species)	Domesticated	Linkage Mapping	Viitala S; Szyda J; Blott S ; et al. (2006) The role of the bovine growth hormone receptor and prolactin receptor genes in milk, fat and protein[...] 1 Additional References Rahmatalla SA; Müller U; Strucken EM (2011) The F279Y polymorphism of the GHR gene and its relation to milk production and somatic cell score in[...]	GP00000416	Ghr P16882	Physiology	Phe279Tyr	Bos taurus cattle - (species)	Bos taurus cattle - (species)	Growth Hormone Receptor	Bos taurus cattle - (species)	Published - Accepted by Curator
HMX1	Organ size (ear; cropped)	Cis-regulatory, Insertion	Bos taurus cattle - (species) D	Domesticated	Association Mapping	Koch CT; Bruggmann R; Tetens J ; et al. (2013) A non-coding genomic duplication at the HMX1 locus is associated with crop ears in highland cattle.	GP00002191	HMX1 Q9NP08	Morphology	76bp duplication in an ultra-conserved enhancer located 148 kb apart of the coding region of HMX1	Bos taurus cattle - (species)	Bos taurus cattle - (species) D	HMX1	Bos taurus cattle - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Gene Amplification, Complex Change	Bos taurus cattle - (species)	Domesticated	Linkage Mapping	Durkin K; Coppieters W; Drögemüller C ; et al. (2012) Serial translocation by means of circular intermediates underlies colour sidedness in cattle.	GP00000514	Kit P05532	Morphology	Copy Number Variation of <600kb segments encompassing KIT	Bos taurus cattle - (species)	Bos taurus cattle - (species)	Kit (type III receptor protein-tyrosine kinase)	Bos taurus cattle - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Gene Amplification, Complex Change	Bos taurus cattle - (species) D	Domesticated	Candidate Gene	Brenig B; Beck J; Floren C ; et al. (2013) Molecular genetics of coat colour variations in White Galloway and White Park cattle.	GP00001345	Kit P05532	Morphology	duplication and aberrant insertion on chromosome 29	Bos taurus cattle - (species)	Bos taurus cattle - (species) D	Kit (type III receptor protein-tyrosine kinase)	Bos taurus cattle - (species)	Published - Accepted by Curator
Kit (type III receptor protein-tyrosine kinase)	Coloration (coat)	Gene Amplification, Complex Change	Bos taurus cattle - (species) D	Domesticated	Candidate Gene	Küttel L; Letko A; Häfliger IM ; et al. (2019) A complex structural variant at the KIT locus in cattle with the Pinzgauer spotting pattern. 1 Additional References Artesi M; Tamma N; Deckers M (2020) Colour-sidedness in Gloucester cattle is associated with a complex structural variant impacting regu[...]	GP00002197	Kit P05532	Morphology	Complex chromosomal rearragements including a ~310-kb duplication	Bos taurus cattle - (species)	Bos taurus cattle - (species) D	Kit (type III receptor protein-tyrosine kinase)	Bos taurus cattle - (species)	Published - Accepted by Curator
Kit ligand	Coloration (coat)	Coding, SNP N	Bos taurus cattle - (species) D	Domesticated	Linkage Mapping	Seitz JJ; Schmutz SM; Thue TD ; et al. (1999) A missense mutation in the bovine MGF gene is associated with the roan phenotype in Belgian Blue and[...] 1 Additional References Aasland M; Klungland H; Lien S (2000) Two polymorphisms in the bovine mast cell growth factor gene (MGF).	GP00000101	KITLG P21583	Morphology	Ala193Asp ; missense mutation at position 654 - according to OMIA: c.572C>A p.A191N N	Bos taurus cattle - (species)	Bos taurus cattle - (species) D	Kit ligand	Bos taurus cattle - (species)	Published - Accepted by Curator
KRT27	Hair type (curly)	Coding, SNP	Bos taurus cattle - (species) D	Domesticated	Association Mapping	Daetwyler HD; Capitan A; Pausch H ; et al. (2014) Whole-genome sequencing of 234 bulls facilitates mapping of monogenic and complex traits in cattle.	GP00002026	KRT27 Q0P5J6	Morphology	g.41636961C>G c.276C>G p.Asn92Lys	Bos taurus cattle - (species)	Bos taurus cattle - (species) D	KRT27	Bos taurus cattle - (species)	Published - Accepted by Curator
KRT71	Hair type (curly and hairless)	Coding, Deletion N	Bos taurus cattle - (species) D	Domesticated	Association Mapping	Gandolfi B; Outerbridge CA; Beresford LG ; et al. (2010) The naked truth: Sphynx and Devon Rex cat breed mutations in KRT71.	GP00001730	Krt71 Q9R0H5	Morphology	eight base pair deletion mutation in exon one of the keratin 71 (KRT71) c.334delTGTGCCCA p.Met93AsnfsX14 N	Bos taurus cattle - (species)	Bos taurus cattle - (species) D	KRT71	Bos taurus cattle - (species)	Published - Accepted by Curator
LCORL	Body size	Unknown, Unknown	Bos taurus cattle - (species)	Domesticated	Linkage Mapping	Lindholm-Perry AK; Sexten AK; Kuehn LA ; et al. (2011) Association, effects and validation of polymorphisms within the NCAPG - LCORL locus located on BTA6 [...]	GP00000535	LCORL Q8N3X6	Morphology	Not identified	Bos taurus cattle - (species)	Bos taurus cattle - (species)	LCORL	Bos taurus cattle - (species)	Published - Accepted by Curator
lysozyme	Digestion (anaerobic enzymatic activity)	5 Mutations: Coding SNP	Bos taurus cattle - (species)	Intergeneric or Higher	Candidate Gene	Stewart CB; Schilling JW; Wilson AC (1987 Nov 26-Dec 2) Adaptive evolution in the stomach lysozymes of foregut fermenters. 1 Additional References Kornegay JR; Schilling JW; Wilson AC (1994) Molecular adaptation of a leaf-eating bird: stomach lysozyme of the hoatzin.	GP00000557	LYZ1 P04421	Physiology	5 mutations	Mammalia mammals - (class)	Bos taurus cattle - (species)	lysozyme	Bos taurus cattle - (species)	Published - Accepted by Curator
MC1R	Coloration (coat)	Coding, Deletion N	Bos taurus cattle - (species) D	Domesticated	Candidate Gene	Klungland H; Våge DI; Gomez-Raya L ; et al. (1995) The role of melanocyte-stimulating hormone (MSH) receptor in bovine coat color determination. 1 Additional References Joerg H; Fries HR; Meijerink E (1996) Red coat color in Holstein cattle is associated with a deletion in the MSHR gene.	GP00000571	MC1R Q01726	Morphology	1 bp deletion at 104: frameshift and premature stop at amino acid 156 N	Bos taurus cattle - (species)	Bos taurus cattle - (species) D	MC1R	Bos taurus cattle - (species)	Published - Accepted by Curator
MC1R	Coloration (coat)	Coding, SNP	Bos taurus cattle - (species) D	Domesticated	Candidate Gene	Klungland H; Våge DI; Gomez-Raya L ; et al. (1995) The role of melanocyte-stimulating hormone (MSH) receptor in bovine coat color determination.	GP00000572	MC1R Q01726	Morphology	L99P ; presumably constitutively active - g.14757910T>C c.296T>C p.L99P	Bos taurus cattle - (species)	Bos taurus cattle - (species) D	MC1R	Bos taurus cattle - (species)	Published - Accepted by Curator
Melanophilin (MLPH)	Coloration (coat)	Coding, Deletion N	Bos taurus cattle - (species) D	Domesticated	Candidate Gene	Li W; Sartelet A; Tamma N ; et al. (2016) Reverse genetic screen for loss-of-function mutations uncovers a frameshifting deletion in the melan[...]	GP00000642	Mlph Q91V27	Morphology	10bp deletion in exon1 ; c.87_96del p.Glu32Aspfs*1 N	Bos taurus cattle - (species)	Bos taurus cattle - (species) D	Melanophilin (MLPH)	Bos taurus cattle - (species)	Published - Accepted by Curator
Microphtalmia-associated transcription factor	Coloration (coat)	Unknown, Unknown	Bos taurus cattle - (species) D	Domesticated	Linkage Mapping	Fontanesi L; Scotti E; Russo V (2012) Haplotype variability in the bovine MITF gene and association with piebaldism in Holstein and Simmen[...] 2 Additional References Hayes BJ; Pryce J; Chamberlain AJ (2010) Genetic architecture of complex traits and accuracy of genomic prediction: coat colour, milk-fat per[...] Jivanji S; Worth G; Lopdell TJ (2019) Genome-wide association analysis reveals QTL and candidate mutations involved in white spotting in c[...]	GP00000656	Mitf Q08874	Morphology	unknown but association with intronic variant	Bos taurus cattle - (species)	Bos taurus cattle - (species) D	Microphtalmia-associated transcription factor	Bos taurus cattle - (species)	Published - Accepted by Curator
Microphtalmia-associated transcription factor	Coloration (coat)	Unknown, Unknown	Bos taurus cattle - (species) D	Domesticated	Association Mapping	Hofstetter S; Seefried F; Häfliger IM ; et al. (2019) A non-coding regulatory variant in the 5'-region of the MITF gene is associated with white-spotted c[...]	GP00002326	Mitf Q08874	Morphology	unknown based SNP association	Bos taurus cattle - (species)	Bos taurus cattle - (species) D	Microphtalmia-associated transcription factor	Bos taurus cattle - (species)	Published - Accepted by Curator
MRC2	Muscular mass Tail shape (crooked ; defect)	Coding, Deletion N	Bos taurus cattle - (species) D	Domesticated	Association Mapping	Fasquelle C; Sartelet A; Li W ; et al. (2009) Balancing selection of a frame-shift mutation in the MRC2 gene accounts for the outbreak of the Croo[...] 2 Additional References Sartelet A; Klingbeil P; Franklin CK (2012) Allelic heterogeneity of Crooked Tail Syndrome: result of balancing selection? Druet T; Ahariz N; Cambisano N (2014) Selection in action: dissecting the molecular underpinnings of the increasing muscle mass of Belgian[...]	GP00002264	MRC2 Q9UBG0	Physiology Morphology	c.2904-2905delAG p.Gly934X N	Bos taurus cattle - (species)	Bos taurus cattle - (species) D	MRC2	Bos taurus cattle - (species)	Published - Accepted by Curator
MRC2	Muscular mass Tail shape (crooked ; defect)	Coding, SNP	Bos taurus cattle - (species) D	Domesticated	Association Mapping	Fasquelle C; Sartelet A; Li W ; et al. (2009) Balancing selection of a frame-shift mutation in the MRC2 gene accounts for the outbreak of the Croo[...] 2 Additional References Sartelet A; Klingbeil P; Franklin CK (2012) Allelic heterogeneity of Crooked Tail Syndrome: result of balancing selection? Druet T; Ahariz N; Cambisano N (2014) Selection in action: dissecting the molecular underpinnings of the increasing muscle mass of Belgian[...]	GP00002265	MRC2 Q9UBG0	Physiology Morphology	c.1906T>G p.C636G	Bos taurus cattle - (species)	Bos taurus cattle - (species) D	MRC2	Bos taurus cattle - (species)	Published - Accepted by Curator
MSH4	Recombination rate (female)	Unknown, Unknown	Bos taurus cattle - (species)	Domesticated	Association Mapping	Ma L; O'Connell JR; VanRaden PM ; et al. (2015) Cattle Sex-Specific Recombination and Genetic Control from a Large Pedigree Analysis.	GP00001665	MSH4 E1BK76	Physiology	On chromosome 3. Associated SNP located in the intron of the gene	Bos taurus cattle - (species)	Bos taurus cattle - (species)	MSH4	Bos taurus cattle - (species)	Published - Accepted by Curator
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, 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
NEK9	Recombination rate	Unknown, Unknown	Bos taurus cattle - (species)	Domesticated	Association Mapping	Ma L; O'Connell JR; VanRaden PM ; et al. (2015) Cattle Sex-Specific Recombination and Genetic Control from a Large Pedigree Analysis.	GP00001663	NEK9 F1MM88	Physiology	On chromosome 10. Associated SNP located 10 kb dowstream	Bos taurus cattle - (species)	Bos taurus cattle - (species)	NEK9	Bos taurus cattle - (species)	Published - Accepted by Curator
opsin - rhodopsin1 (RH1)	Color vision (blue-shift)	2 Mutations: Coding SNP	Orcinus orca killer whale - (species) D	Intergeneric or Higher	Candidate Gene	Dungan SZ; Kosyakov A; Chang BS (2016) Spectral Tuning of Killer Whale (Orcinus orca) Rhodopsin: Evidence for Positive Selection and Functi[...] 1 Additional References Meredith RW; Gatesy J; Emerling CA (2013) Rod monochromacy and the coevolution of cetacean retinal opsins.	GP00000785	RHO P08100	Physiology	2 mutations	Bos taurus cattle - (species)	Orcinus orca killer whale - (species) D	opsin - rhodopsin1 (RH1)	Orcinus orca killer whale - (species)	Published - Accepted by Curator
PABPN1	Recombination rate	Unknown, Unknown	Bos taurus cattle - (species)	Domesticated	Association Mapping	Ma L; O'Connell JR; VanRaden PM ; et al. (2015) Cattle Sex-Specific Recombination and Genetic Control from a Large Pedigree Analysis.	GP00001660	PABPN1 Q28165	Physiology	On chromosome 10. Associated SNP located dowstream of PABPN1	Bos taurus cattle - (species)	Bos taurus cattle - (species)	PABPN1	Bos taurus cattle - (species)	Published - Accepted by Curator
PLAG1	Body size (height; weight)	Cis-regulatory, Insertion	Bos taurus cattle - (species) D	Domesticated	Linkage Mapping	Karim L; Takeda H; Lin L ; et al. (2011) Variants modulating the expression of a chromosome domain encompassing PLAG1 influence bovine statur[...]	GP00001569	PLAG1 E1BEA5	Morphology	a (CCG)n trinucleotide repeat with 9> 11 copies and a SNP A>G immediately upstream of PLAG1 transcriptional start site	Bos taurus cattle - (species)	Bos taurus cattle - (species) D	PLAG1	Bos taurus cattle - (species)	Published - Accepted by Curator
PMEL17	Coloration (coat)	Coding, SNP	Bos taurus cattle - (species) D	Domesticated	Linkage Mapping	Gutiérrez-Gil B; Wiener P; Williams JL (2007) Genetic effects on coat colour in cattle: dilution of eumelanin and phaeomelanin pigments in an F2-B[...]	GP00002027	PMEL Q06154	Morphology	g.57669926G>A c.64G>A p.Gly22Arg	Bos taurus cattle - (species)	Bos taurus cattle - (species) D	PMEL17	Bos taurus cattle - (species)	Published - Accepted by Curator
PMEL17	Coloration (coat)	Coding, Deletion	Bos taurus cattle - (species) D Bos grunniens domestic yak - (species) D	Domesticated	Candidate Gene	Jolly RD; Wills JL; Kenny JE ; et al. (2008) Coat-colour dilution and hypotrichosis in Hereford crossbred calves.	GP00002028	PMEL Q06154	Morphology	3bp deletion - g.57669913_57669915delTTC - c.50_52delTTC - p.Leu19del	Bos taurus cattle - (species)	Bos taurus cattle - (species) D Bos grunniens domestic yak - (species) D	PMEL17	Bos taurus cattle - (species) Bos grunniens domestic yak - (species)	Published - Accepted by Curator
POLLED locus	Horns absence	Cis-regulatory, Indel	Bos taurus cattle - (species) D	Domesticated	Linkage Mapping	Medugorac I; Seichter D; Graf A ; et al. (2012) Bovine polledness--an autosomal dominant trait with allelic heterogeneity. 2 Additional References Allais-Bonnet A; Grohs C; Medugorac I (2013) Novel insights into the bovine polled phenotype and horn ontogenesis in Bovidae. Wiedemar N; Tetens J; Jagannathan V (2014) Independent polled mutations leading to complex gene expression differences in cattle.	GP00000916		Morphology	complex 202-bp insertion-deletion in a non-coding region resulting in a long non-coding RNA (lncRNA) ectopic expression	Bos taurus cattle - (species)	Bos taurus cattle - (species) D	POLLED locus	Bos taurus cattle - (species)	Published - Accepted by Curator
POLLED locus	Horns absence	Cis-regulatory, Insertion	Bos taurus cattle - (species) D	Domesticated	Linkage Mapping	Medugorac I; Seichter D; Graf A ; et al. (2012) Bovine polledness--an autosomal dominant trait with allelic heterogeneity. 3 Additional References Allais-Bonnet A; Grohs C; Medugorac I (2013) Novel insights into the bovine polled phenotype and horn ontogenesis in Bovidae. Wiedemar N; Tetens J; Jagannathan V (2014) Independent polled mutations leading to complex gene expression differences in cattle. Rothammer S; Capitan A; Mullaart E (2014) The 80-kb DNA duplication on BTA1 is the only remaining candidate mutation for the polled phenotype [...]	GP00002029		Morphology	a 80kb duplication is the "single causal mutation" in Holstein-Friesian cattle complex	Bos taurus cattle - (species)	Bos taurus cattle - (species) D	POLLED locus	Bos taurus cattle - (species)	Published - Accepted by Curator
POLLED locus	Horns absence	Cis-regulatory, Complex Change	Bos taurus cattle - (species) D Bos grunniens domestic yak - (species) D	Domesticated	Association Mapping	Medugorac I; Graf A; Grohs C ; et al. (2017) Whole-genome analysis of introgressive hybridization and characterization of the bovine legacy of Mo[...]	GP00002030		Morphology	a complex 219-bp duplication–insertion (P219ID) beginning at 1;976;128 bp and a 7-bp deletion and 6-bp insertion (P1ID) located 621 bp upstream of this position. This rearrangement results in duplication of an 11-bp motif (5′-AAAGAAGCAAA-3′) that is entirely conserved among Bovidae and that is also duplicated in the 80-kb duplication responsible for Friesian polledness.	Bos taurus cattle - (species)	Bos taurus cattle - (species) D Bos grunniens domestic yak - (species) D	POLLED locus	Bos taurus cattle - (species) Bos grunniens domestic yak - (species)	Published - Accepted by Curator
POLLED locus	Horns absence	Cis-regulatory, Insertion	Bos taurus cattle - (species) D	Domesticated	Association Mapping	Utsunomiya YT; Torrecilha RBP; Milanesi M ; et al. (2019) Hornless Nellore cattle (Bos indicus) carrying a novel 110 kbp duplication variant of the polled loc[...]	GP00002031		Morphology	duplication of the region BTA1: 1;893;790–2;004;553 (about 110 kb)	Bos taurus cattle - (species)	Bos taurus cattle - (species) D	POLLED locus	Bos taurus cattle - (species)	Published - Accepted by Curator
PRDM9	Recombination rate (male)	Coding, Deletion	Bos taurus cattle - (species)	Domesticated	Linkage Mapping	Sandor C; Li W; Coppieters W ; et al. (2012) Genetic variants in REC8, RNF212, and PRDM9 influence male recombination in cattle.	GP00001640	PRDM9 A6QNW2	Physiology	variation in the C-terminal tandem array of Cys2His2 zinc-finger domains: 22 domains > 20 domains decreasing 6-fold Genome wide hot window usage in Crossing Over	Bos taurus cattle - (species)	Bos taurus cattle - (species)	PRDM9	Bos taurus cattle - (species)	Published - Accepted by Curator
PRDM9	Recombination rate (male)	Coding, SNP	Bos taurus cattle - (species)	Domesticated	Linkage Mapping	Sandor C; Li W; Coppieters W ; et al. (2012) Genetic variants in REC8, RNF212, and PRDM9 influence male recombination in cattle.	GP00001641	PRDM9 A6QNW2	Physiology	variation in the C-terminal tandem array of Cys2His2 zinc-finger domains: T68A p.I23K in domain 11 has a major effect. K allele decreasing 30-fold Genome wide hot window usage in Crossing Over compared to I allele	Bos taurus cattle - (species)	Bos taurus cattle - (species)	PRDM9	Bos taurus cattle - (species)	Published - Accepted by Curator
PRDM9	Recombination rate (male)	Coding, SNP	Bos taurus cattle - (species)	Domesticated	Linkage Mapping	Sandor C; Li W; Coppieters W ; et al. (2012) Genetic variants in REC8, RNF212, and PRDM9 influence male recombination in cattle.	GP00001642	PRDM9 A6QNW2	Physiology	variation in the C-terminal tandem array of Cys2His2 zinc-finger domains: T20C p.A>Y sustitutions in domains 14. Y allele increasing 6-fold Genome wide hot window usage in Crossing Over	Bos taurus cattle - (species)	Bos taurus cattle - (species)	PRDM9	Bos taurus cattle - (species)	Published - Accepted by Curator
PRKG2	Body size (dwarfism)	Coding, SNP N	Bos taurus cattle - (species) D	Domesticated	Linkage Mapping	Koltes JE; Mishra BP; Kumar D ; et al. (2009) A nonsense mutation in cGMP-dependent type II protein kinase (PRKG2) causes dwarfism in American Ang[...]	GP00002273	PRKG2 Q13237	Morphology	c.1573C>T p.R525* N	Bos taurus cattle - (species)	Bos taurus cattle - (species) D	PRKG2	Bos taurus cattle - (species)	Published - Accepted by Curator
PRKG2	Body size (dwarfism)	Coding, SNP N	Bos taurus cattle - (species) D	Domesticated	Linkage Mapping	Koltes JE; Mishra BP; Kumar D ; et al. (2009) A nonsense mutation in cGMP-dependent type II protein kinase (PRKG2) causes dwarfism in American Ang[...]	GP00002274	PRKG2 Q13237	Morphology	c.2032C>T p.R678* N	Bos taurus cattle - (species)	Bos taurus cattle - (species) D	PRKG2	Bos taurus cattle - (species)	Published - Accepted by Curator
Prolactin	Hair length (long)	Coding, SNP	Bos taurus cattle - (species) D	Domesticated	Linkage Mapping	Littlejohn MD; Henty KM; Tiplady K ; et al. (2014) Functionally reciprocal mutations of the prolactin signalling pathway define hairy and slick cattle.	GP00002032	PRL P01239	Morphology	g.35105313A>C - c.661A>C - p.C221G	Bos taurus cattle - (species)	Bos taurus cattle - (species) D	Prolactin	Bos taurus cattle - (species)	Published - Accepted by Curator
Prolactin	Hair length (short)	Coding, Deletion N	Bos taurus cattle - (species) D	Domesticated	Linkage Mapping	Littlejohn MD; Henty KM; Tiplady K ; et al. (2014) Functionally reciprocal mutations of the prolactin signalling pathway define hairy and slick cattle.	GP00002033	PRL P01239	Morphology	1-bp deletion in exon 10 that introduces a premature stop codon (p.Leu462*) and loss of 120 C-terminal amino acids from the long isoform of the receptor (ss1067289408; chr20:39136558GC>G) N	Bos taurus cattle - (species)	Bos taurus cattle - (species) D	Prolactin	Bos taurus cattle - (species)	Published - Accepted by Curator
Prolactin receptor	Milk yield	Coding, SNP	Bos taurus cattle - (species)	Domesticated	Candidate Gene	Viitala S; Szyda J; Blott S ; et al. (2006) The role of the bovine growth hormone receptor and prolactin receptor genes in milk, fat and protein[...]	GP00000927	PRLR P16471	Physiology	Ser18Asn	Bos taurus cattle - (species)	Bos taurus cattle - (species)	Prolactin receptor	Bos taurus cattle - (species)	Published - Accepted by Curator
Prolactin receptor	Hair (slick ; short ; thermotolerance) Thermoregulation (tolerance to warm climate)	Coding, Deletion N	Bos taurus cattle - (species) D	Domesticated		Littlejohn MD; Henty KM; Tiplady K ; et al. (2014) Functionally reciprocal mutations of the prolactin signalling pathway define hairy and slick cattle.	GP00002282	PRLR P16471	Morphology Physiology	g.39136559delC p.Leu462* N	Bos taurus cattle - (species)	Bos taurus cattle - (species) D	Prolactin receptor	Bos taurus cattle - (species)	Published - Accepted by Curator
Prolactin receptor	Hair (slick ; short) Thermoregulation (tolerance to warm climate)	Coding, SNP N	Bos taurus cattle - (species) D	Domesticated		Porto-Neto LR; Bickhart DM; Landaeta-Hernandez AJ ; et al. (2018) Convergent Evolution of Slick Coat in Cattle through Truncation Mutations in the Prolactin Receptor.	GP00002283	PRLR P16471	Morphology Physiology	g.39136571C>A p.Ser465* N	Bos taurus cattle - (species)	Bos taurus cattle - (species) D	Prolactin receptor	Bos taurus cattle - (species)	Published - Accepted by Curator
Prolactin receptor	Hair (slick ; short) Thermoregulation (tolerance to warm climate)	Coding, SNP N	Bos taurus cattle - (species) D	Domesticated		Porto-Neto LR; Bickhart DM; Landaeta-Hernandez AJ ; et al. (2018) Convergent Evolution of Slick Coat in Cattle through Truncation Mutations in the Prolactin Receptor.	GP00002284	PRLR P16471	Morphology Physiology	g.39136666C>T p.Arg497* N	Bos taurus cattle - (species)	Bos taurus cattle - (species) D	Prolactin receptor	Bos taurus cattle - (species)	Published - Accepted by Curator
Ptch1	Limb morphology (skeleton)	Cis-regulatory, Unknown	Bos taurus cattle - (species) D	Intergeneric or Higher	Candidate Gene	Lopez-Rios J; Duchesne A; Speziale D ; et al. (2014) Attenuated sensing of SHH by Ptch1 underlies evolution of bovine limbs.	GP00001389	Ptch1 Q61115	Morphology	LRM enhancer located between coding exons 15 and 19 at 37 kb of the transcription start site - exact causing mutation(s) unknown - Loss of activity of the LRM enhancer that normally upregulates Ptch1 expression in the limb-bud mesenchyme in response to SHH signalling	Mus musculus house mouse - (species)	Bos taurus cattle - (species) D	Ptch1	Bos taurus cattle - (species)	Published - Accepted by Curator
REC114	Recombination rate	Unknown, Unknown	Bos taurus cattle - (species)	Domesticated	Association Mapping	Ma L; O'Connell JR; VanRaden PM ; et al. (2015) Cattle Sex-Specific Recombination and Genetic Control from a Large Pedigree Analysis.	GP00001661	REC114 Q7Z4M0	Physiology	On chromosome 10. Associated SNP located dowstream of the gene	Bos taurus cattle - (species)	Bos taurus cattle - (species)	REC114	Bos taurus cattle - (species)	Published - Accepted by Curator
REC8	Recombination rate (male)	Cis-regulatory, SNP	Bos taurus cattle - (species)	Domesticated	Linkage Mapping	Sandor C; Li W; Coppieters W ; et al. (2012) Genetic variants in REC8, RNF212, and PRDM9 influence male recombination in cattle.	GP00001638	REC8 E1BL69	Physiology	A>G in intron 12 with reduction in Genome-wide recombination rate	Bos taurus cattle - (species)	Bos taurus cattle - (species)	REC8	Bos taurus cattle - (species)	Published - Accepted by Curator
RNF11	Body size (dwarfism)	Cis-regulatory, Deletion	Bos taurus cattle - (species) D	Domesticated	Association Mapping	Sartelet A; Druet T; Michaux C ; et al. (2012) A splice site variant in the bovine RNF11 gene compromises growth and regulation of the inflammatory[...]	GP00002275	RNF11 Q9Y3C5	Morphology	g.95601696A>G c.124-2A>G affecting splicing site	Bos taurus cattle - (species)	Bos taurus cattle - (species) D	RNF11	Bos taurus cattle - (species)	Published - Accepted by Curator
RNF212	Recombination rate (male)	Coding, SNP	Bos taurus cattle - (species)	Domesticated	Linkage Mapping	Sandor C; Li W; Coppieters W ; et al. (2012) Genetic variants in REC8, RNF212, and PRDM9 influence male recombination in cattle.	GP00001639	RNF212 Q495C1	Physiology	T>C p.P259S in exon 12 with reduction in Genome-wide recombination rate	Bos taurus cattle - (species)	Bos taurus cattle - (species)	RNF212	Bos taurus cattle - (species)	Published - Accepted by Curator
SLC45A2=MATP	Coloration (coat; albinism)	Coding, SNP	Bos taurus cattle - (species) D	Domesticated	Linkage Mapping	Rothammer S; Kunz E; Seichter D ; et al. (2017) Detection of two non-synonymous SNPs in SLC45A2 on BTA20 as candidate causal mutations for oculocuta[...]	GP00002036	SLC45A2 Q9UMX9	Morphology	exact causing mutation(s) unknown - two possible amino acid changes	Bos taurus cattle - (species)	Bos taurus cattle - (species) D	SLC45A2=MATP	Bos taurus cattle - (species)	Published - Accepted by Curator
SMC3	Recombination rate (female)	Unknown, Unknown	Bos taurus cattle - (species)	Domesticated	Association Mapping	Ma L; O'Connell JR; VanRaden PM ; et al. (2015) Cattle Sex-Specific Recombination and Genetic Control from a Large Pedigree Analysis.	GP00001666	SMC3 O97594	Physiology	On chromosome 26. Associated SNP located upstream	Bos taurus cattle - (species)	Bos taurus cattle - (species)	SMC3	Bos taurus cattle - (species)	Published - Accepted by Curator
TICAM1	Pathogen resistance (Trypanosoma)	Coding, Unknown	Bos taurus cattle - (species)	Domesticated	Linkage Mapping	Noyes H; Brass A; Obara I ; et al. (2011) Genetic and expression analysis of cattle identifies candidate genes in pathways responding to Trypa[...]	GP00001128	TICAM1 Q8IUC6	Physiology	unknown	Bos oxen, cattle - (genus)	Bos taurus cattle - (species)	TICAM1	Bos taurus cattle - (species)	Published - Accepted by Curator
Twist1	Horn shape (scurs)	Coding, Insertion N	Bos taurus cattle - (species) D	Domesticated	Linkage Mapping	Capitan A; Grohs C; Weiss B ; et al. (2011) A newly described bovine type 2 scurs syndrome segregates with a frame-shift mutation in TWIST1.	GP00002034	Twist1 P26687	Morphology; Physiology	small duplication (c.148_157dup (p.A56RfsX87)) that causes a frameshift and inactivates the gene. N	Bos taurus cattle - (species)	Bos taurus cattle - (species) D	Twist1	Bos taurus cattle - (species)	Published - Accepted by Curator
Twist2	Coloration (coat; white belt)	Cis-regulatory, Insertion	Bos taurus cattle - (species) D	Domesticated	Linkage Mapping	Awasthi Mishra N; Drögemüller C; Jagannathan V ; et al. (2017) A structural variant in the 5'-flanking region of the TWIST2 gene affects melanocyte development in [...] 2 Additional References Rothammer S; Kunz E; Krebs S (2018) Remapping of the belted phenotype in cattle on BTA3 identifies a multiplication event as the candida[...] Drögemüller C; Demmel S; Engensteiner M (2010) A shared 336 kb haplotype associated with the belt pattern in three divergent cattle breeds.	GP00002035	Twist2 Q9D030	Morphology	quadruplication (CNV) of a 6 kb non-coding sequence located approximately 16 kb upstream of the TWIST2 gene	Bos taurus cattle - (species)	Bos taurus cattle - (species) D	Twist2	Bos taurus cattle - (species)	Published - Accepted by Curator
tyrosinase (TYR)	Coloration (coat)	Coding, Insertion N	Bos taurus cattle - (species) D	Domesticated	Candidate Gene	Schmutz SM; Berryere TG; Ciobanu DC ; et al. (2004) A form of albinism in cattle is caused by a tyrosinase frameshift mutation.	GP00002315	Tyr P11344	Morphology	c.925_926insC N	Bos taurus cattle - (species)	Bos taurus cattle - (species) D	tyrosinase (TYR)	Bos taurus cattle - (species)	Published - Accepted by Curator
tyrosinase-related protein 1 (TYRP1)	Coloration (coat)	Coding, SNP	Bos taurus cattle - (species)	Domesticated	Linkage Mapping	Berryere TG; Schmutz SM; Schimpf RJ ; et al. (2003) TYRP1 is associated with dun coat colour in Dexter cattle or how now brown cow?	GP00001145	Tyrp1 P07147	Morphology	c.1300C>T p.H434Y	Bos taurus cattle - (species)	Bos taurus cattle - (species)	tyrosinase-related protein 1 (TYRP1)	Bos taurus cattle - (species)	Published - Accepted by Curator