ABCG2
Milk yield
Unknown,
Unknown
Ovis aries
sheep - (species)
Domesticated
Candidate Gene
García-Fernández M; Gutiérrez-Gil B; Sánchez JP ; et al. (2011)
The role of bovine causal genes underlying dairy traits in Spanish Churra sheep.
GP00000016
Abcg2
Q7TMS5
Physiology
unknown
Ovis aries
sheep - (species)
Ovis aries
sheep - (species)
ABCG2
Ovis aries
sheep - (species)
Published - Accepted by Curator
Agouti (ASIP)
Coloration (coat)
Gene Amplification,
Insertion
Ovis aries
sheep - (species) D
Domesticated
Candidate Gene
Norris BJ; Whan VA (2008)
A gene duplication affecting expression of the ovine ASIP gene is responsible for white and black sh[...]
1 Additional References
GP00001324
Asip
Q03288
Morphology
~190kb gene duplication causing dominant white phenotype. Duplication was facilitated by homologous recombination between two non-LTR SINE sequences flanking the duplicated segment ; possible involvement of gene conversion.
Ovis aries
sheep - (species)
Ovis aries
sheep - (species) D
Agouti (ASIP)
Ovis aries
sheep - (species)
Published - Accepted by Curator
Agouti (ASIP)
Coloration (coat)
Cis-regulatory,
SNP
Ovis aries
sheep - (species) D
Domesticated
Candidate Gene
Norris BJ; Whan VA (2008)
A gene duplication affecting expression of the ovine ASIP gene is responsible for white and black sh[...]
GP00001325
Asip
Q03288
Morphology
unidentified promoter silencing
Ovis aries
sheep - (species)
Ovis aries
sheep - (species) D
Agouti (ASIP)
Ovis aries
sheep - (species)
Published - Accepted by Curator
Agouti (ASIP)
Coloration (coat)
Lifespan
2 Mutations:
Coding
N
Ovis aries
sheep - (species) D
Intraspecific
Linkage Mapping
Gratten J; Pilkington JG; Brown EA ; et al. (2010)
The genetic basis of recessive self-colour pattern in a wild sheep population.
1 Additional References
GP00001356
Asip
Q03288
Morphology
Physiology
2 mutations
Ovis aries
sheep - (species)
Ovis aries
sheep - (species) D
Agouti (ASIP)
Ovis aries
sheep - (species)
Published - Accepted by Curator
B4GALNT2
Fertility (increased ovulation rate)
Cis-regulatory,
Unknown
Ovis aries
sheep - (species) D
Domesticated
Linkage Mapping
Drouilhet L; Mansanet C; Sarry J ; et al. (2013)
The highly prolific phenotype of Lacaune sheep is associated with an ectopic expression of the B4GAL[...]
GP00001979
B4galnt2
Q09199
Physiology
candidate region to 197kb ; putative mutation (g.36938224T>A) in intron 7or (g.37034573A>G) 96 kb away in an intergenic region
Ovis aries
sheep - (species)
Ovis aries
sheep - (species) D
B4GALNT2
Ovis aries
sheep - (species)
Published - Accepted by Curator
BCO2 = beta-carotene oxygenase 2
Carotenoid content (yellow fat)
Coding,
SNP
N
Ovis aries
sheep - (species) D
Domesticated
Candidate Gene
Våge DI; Boman IA (2010)
A nonsense mutation in the beta-carotene oxygenase 2 (BCO2) gene is tightly associated with accumula[...]
1 Additional References
GP00000140
BCO2
Q9BYV7
Physiology
g.21947481C>T ; c.196C>T ; p.Q66* N
Ovis aries
sheep - (species)
Ovis aries
sheep - (species) D
BCO2 = beta-carotene oxygenase 2
Ovis aries
sheep - (species)
Published - Accepted by Curator
BMP receptor IB (BMPRIB)
Fertility (increased ovulation rate)
Coding,
SNP
Ovis aries
sheep - (species) D
Domesticated
Linkage Mapping
Mulsant P; Lecerf F; Fabre S ; et al. (2001)
Mutation in bone morphogenetic protein receptor-IB is associated with increased ovulation rate in Bo[...]
GP00000146
BMPR-IB
Q9BDI4
Physiology
g.29382188A>G c.914A>G p.Q305R
Ovis aries
sheep - (species)
Ovis aries
sheep - (species) D
BMP receptor IB (BMPRIB)
Ovis aries
sheep - (species)
Published - Accepted by Curator
BMP15
Fertility (increased ovulation rate)
Coding,
SNP
N
Ovis aries
sheep - (species) D
Domesticated
Linkage Mapping
Galloway SM; McNatty KP; Cambridge LM ; et al. (2000)
Mutations in an oocyte-derived growth factor gene (BMP15) cause increased ovulation rate and inferti[...]
GP00000147
Bmp15
Q9Z0L4
Physiology
c.67C>T p.Q23* N
Ovis aries
sheep - (species)
Ovis aries
sheep - (species) D
BMP15
Ovis aries
sheep - (species)
Published - Accepted by Curator
BMP15
Fertility (increased ovulation rate)
Coding,
SNP
Ovis aries
sheep - (species) D
Domesticated
Linkage Mapping
Galloway SM; McNatty KP; Cambridge LM ; et al. (2000)
Mutations in an oocyte-derived growth factor gene (BMP15) cause increased ovulation rate and inferti[...]
GP00000148
Bmp15
Q9Z0L4
Physiology
A distinct single T>A transition occurs in FecXI carriers at nucleotide position 92 of the mature peptide . . . The mutation substitutes valine (V) with aspartic acid (D) at residue 31 (residue 299 of unprocessed protein) . . . The FecXI mutation is a non-conservative change in a highly conserved region of the protein
Ovis aries
sheep - (species)
Ovis aries
sheep - (species) D
BMP15
Ovis aries
sheep - (species)
Published - Accepted by Curator
BMP15
Fertility (increased ovulation rate)
Coding,
SNP
Ovis aries
sheep - (species) D
Domesticated
Association Mapping
Demars J; Fabre S; Sarry J ; et al. (2013)
Genome-wide association studies identify two novel BMP15 mutations responsible for an atypical hyper[...]
GP00000149
Bmp15
Q9Z0L4
Physiology
c.950C>T p.T317I
Ovis aries
sheep - (species)
Ovis aries
sheep - (species) D
BMP15
Ovis aries
sheep - (species)
Published - Accepted by Curator
BMP15
Fertility (increased ovulation rate)
Coding,
SNP
Ovis aries
sheep - (species) D
Domesticated
Association Mapping
Demars J; Fabre S; Sarry J ; et al. (2013)
Genome-wide association studies identify two novel BMP15 mutations responsible for an atypical hyper[...]
GP00000150
Bmp15
Q9Z0L4
Physiology
c.1009A>C p.N337H
Ovis aries
sheep - (species)
Ovis aries
sheep - (species) D
BMP15
Ovis aries
sheep - (species)
Published - Accepted by Curator
BMP15
Fertility (increased ovulation rate)
Coding,
SNP
N
Ovis aries
sheep - (species) D
Domesticated
Candidate Gene
Hanrahan JP; Gregan SM; Mulsant P ; et al. (2004)
Mutations in the genes for oocyte-derived growth factors GDF9 and BMP15 are associated with both inc[...]
GP00002155
Bmp15
Q9Z0L4
Physiology
c.718C>T ; p.Q239* N
Ovis aries
sheep - (species)
Ovis aries
sheep - (species) D
BMP15
Ovis aries
sheep - (species)
Published - Accepted by Curator
BMP15
Fertility (increased ovulation rate)
Coding,
SNP
Ovis aries
sheep - (species) D
Domesticated
Linkage Mapping
Galloway SM; McNatty KP; Cambridge LM ; et al. (2000)
Mutations in an oocyte-derived growth factor gene (BMP15) cause increased ovulation rate and inferti[...]
GP00002156
Bmp15
Q9Z0L4
Physiology
c.G>A p.C321Y missense nonconservative substitution ; in vitro studies showed that the C53Y mutation was responsible for the impairment of the maturation process of the BMP15 protein resulting in a defective secretion of both the precursor and mature peptide
Ovis aries
sheep - (species)
Ovis aries
sheep - (species) D
BMP15
Ovis aries
sheep - (species)
Published - Accepted by Curator
BMP15
Fertility (increased ovulation rate)
Coding,
SNP
Ovis aries
sheep - (species) D
Domesticated
Candidate Gene
Hanrahan JP; Gregan SM; Mulsant P ; et al. (2004)
Mutations in the genes for oocyte-derived growth factors GDF9 and BMP15 are associated with both inc[...]
GP00002157
Bmp15
Q9Z0L4
Physiology
c.1100G>T p.S367I
Ovis aries
sheep - (species)
Ovis aries
sheep - (species) D
BMP15
Ovis aries
sheep - (species)
Published - Accepted by Curator
BMP15
Fertility (increased ovulation rate)
Coding,
Deletion
N
Ovis aries
sheep - (species) D
Domesticated
Candidate Gene
Martinez-Royo A; Jurado JJ; Smulders JP ; et al. (2008)
A deletion in the bone morphogenetic protein 15 gene causes sterility and increased prolificacy in R[...]
1 Additional References
GP00002158
Bmp15
Q9Z0L4
Physiology
c.525_541del17 p.Pro45Asnfs*54 N
Ovis aries
sheep - (species)
Ovis aries
sheep - (species) D
BMP15
Ovis aries
sheep - (species)
Published - Accepted by Curator
BMP15
Fertility (increased ovulation rate)
Coding,
Insertion
N
Ovis aries
sheep - (species) D
Domesticated
Candidate Gene
Lassoued N; Benkhlil Z; Woloszyn F ; et al. (2017)
FecX a Novel BMP15 mutation responsible for prolificacy and female sterility in Tunisian Barbarine [...]
GP00002159
Bmp15
Q9Z0L4
Physiology
C insertion (c.310insC) in the ovine BMP15 cDNA leading to a frame shift at protein position 101 N
Ovis aries
sheep - (species)
Ovis aries
sheep - (species) D
BMP15
Ovis aries
sheep - (species)
Published - Accepted by Curator
BMP15
Fertility (increased ovulation rate)
Cis-regulatory,
SNP
Ovis aries
sheep - (species) D
Domesticated
Association Mapping
Demars J; Fabre S; Sarry J ; et al. (2013)
Genome-wide association studies identify two novel BMP15 mutations responsible for an atypical hyper[...]
GP00002329
Bmp15
Q9Z0L4
Physiology
T>A SPN upstream of the BMP15 gene associated with the prolificacy variability (P = 1.93E-11). Effect of +0.20 lamb per lambing at the heterozygous state.
Ovis aries
sheep - (species)
Ovis aries
sheep - (species) D
BMP15
Ovis aries
sheep - (species)
Published - Accepted by Curator
Callipyge (CLPG1)
Muscular mass (double-muscling ; paternal effect)
Cis-regulatory,
SNP
Ovis aries
sheep - (species)
Domesticated
Linkage Mapping
Takeda H; Caiment F; Smit M ; et al. (2006)
The callipyge mutation enhances bidirectional long-range DLK1-GTL2 intergenic transcription in cis.
5 Additional References
GP00000168
DIO3
Q6DN07
Morphology; Physiology
1bp change in the regulatory region of the DLK1-GTL2 imprinted gene cluster
Ovis aries
sheep - (species)
Ovis aries
sheep - (species)
Callipyge (CLPG1)
Ovis aries
sheep - (species)
Published - Accepted by Curator
FGFR3
Body size (bone length)
Coding,
SNP
Ovis aries
sheep - (species) D
Domesticated
Linkage Mapping
Beever JE; Smit MA; Meyers SN ; et al. (2006)
A single-base change in the tyrosine kinase II domain of ovine FGFR3 causes hereditary chondrodyspla[...]
1 Additional References
GP00002184
FGFR3
P22607
Morphology
c.1719T>A p.V700E
Ovis aries
sheep - (species)
Ovis aries
sheep - (species) D
FGFR3
Ovis aries
sheep - (species)
Published - Accepted by Curator
GDF9
Fertility (increased ovulation rate)
Coding,
SNP
Ovis aries
sheep - (species) D
Domesticated
Candidate Gene
Silva BD; Castro EA; Souza CJ ; et al. (2011)
A new polymorphism in the Growth and Differentiation Factor 9 (GDF9) gene is associated with increas[...]
GP00000390
GDF9
O60383
Physiology
F345C
Ovis aries
sheep - (species)
Ovis aries
sheep - (species) D
GDF9
Ovis aries
sheep - (species)
Published - Accepted by Curator
GDF9
Fertility (increased ovulation rate)
Coding,
SNP
Ovis aries
sheep - (species)
Domesticated
Linkage Mapping
Nicol L; Bishop SC; Pong-Wong R ; et al. (2009)
Homozygosity for a single base-pair mutation in the oocyte-specific GDF9 gene results in sterility i[...]
GP00000391
GDF9
O60383
Physiology
g.41841117A>C c.1279A>C p.S427R
Ovis aries
sheep - (species)
Ovis aries
sheep - (species)
GDF9
Ovis aries
sheep - (species)
Published - Accepted by Curator
GDF9
Fertility (increased ovulation rate)
Coding,
SNP
Ovis aries
sheep - (species) D
Domesticated
Linkage Mapping
Våge DI; Husdal M; Kent MP ; et al. (2013)
A missense mutation in growth differentiation factor 9 (GDF9) is strongly associated with litter siz[...]
1 Additional References
GP00002186
GDF9
O60383
Physiology
g.41841285G>A c.1111G>A p.V371M
Ovis aries
sheep - (species)
Ovis aries
sheep - (species) D
GDF9
Ovis aries
sheep - (species)
Published - Accepted by Curator
GDF9
Fertility (increased ovulation rate)
Coding,
SNP
Ovis aries
sheep - (species) D
Domesticated
Linkage Mapping
Hanrahan JP; Gregan SM; Mulsant P ; et al. (2004)
Mutations in the genes for oocyte-derived growth factors GDF9 and BMP15 are associated with both inc[...]
GP00002187
GDF9
O60383
Physiology
g.41841212C>T c.1184C>T p.S395F
Ovis aries
sheep - (species)
Ovis aries
sheep - (species) D
GDF9
Ovis aries
sheep - (species)
Published - Accepted by Curator
GDF9
Fertility (increased ovulation rate)
Coding,
SNP
Ovis aries
sheep - (species) D
Domesticated
Candidate Gene
Souza CJ; McNeilly AS; Benavides MV ; et al. (2014)
Mutation in the protease cleavage site of GDF9 increases ovulation rate and litter size in heterozyg[...]
GP00002188
GDF9
O60383
Physiology
g.41841453C>T c.943C>T p.R315C
Ovis aries
sheep - (species)
Ovis aries
sheep - (species) D
GDF9
Ovis aries
sheep - (species)
Published - Accepted by Curator
IRF2BP2
Hair type (woolly)
Cis-regulatory,
Insertion
Ovis aries
sheep - (species) D
Domesticated
Linkage Mapping
Demars J; Cano M; Drouilhet L ; et al. (2017)
Genome-Wide Identification of the Mutation Underlying Fleece Variation and Discriminating Ancestral [...]
GP00002195
IRF2BP2
Q7Z5L9
Morphology
insertion of an antisense EIF2S2 retrogene (asEIF2S2) into the 3′ UTR of the IRF2BP2 gene ; RNA-RNA hybrid creates a long endogenous double-stranded RNA which alters the expression of both EIF2S2 and IRF2BP2 mRNA
Ovis aries
sheep - (species)
Ovis aries
sheep - (species) D
IRF2BP2
Ovis aries
sheep - (species)
Published - Accepted by Curator
MC1R
Coloration (coat)
Coding,
SNP
Ovis aries
sheep - (species)
Domesticated
Candidate Gene
Våge DI; Klungland H; Lu D ; et al. (1999)
Molecular and pharmacological characterization of dominant black coat color in sheep.
1 Additional References
GP00000591
MC1R
Q01726
Morphology
D121N
Ovis aries
sheep - (species)
Ovis aries
sheep - (species)
MC1R
Ovis aries
sheep - (species)
Published - Accepted by Curator
MC1R
Coloration (coat)
Coding,
SNP
Ovis aries
sheep - (species)
Domesticated
Candidate Gene
Våge DI; Klungland H; Lu D ; et al. (1999)
Molecular and pharmacological characterization of dominant black coat color in sheep.
1 Additional References
GP00000592
MC1R
Q01726
Morphology
M73K
Ovis aries
sheep - (species)
Ovis aries
sheep - (species)
MC1R
Ovis aries
sheep - (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
RXFP2
Horns absence
Somatic sex change
Gene Amplification,
Insertion
Ovis aries
sheep - (species)
Domesticated
Linkage Mapping
Johnston SE; Gratten J; Berenos C ; et al. (2013)
Life history trade-offs at a single locus maintain sexually selected genetic variation.
1 Additional References
GP00001019
RXFP2
Q8WXD0
Morphology
Physiology
1833-bp genomic insertion located in the 3'-UTR region of RXFP2
Ovis aries
sheep - (species)
Ovis aries
sheep - (species)
RXFP2
Ovis aries
sheep - (species)
Published - Accepted by Curator
TBXT
Organ size (tail; short)
Coding,
SNP
Ovis aries
sheep - (species) D
Domesticated
Linkage Mapping
Zhi D; Da L; Liu M ; et al. (2018)
Whole Genome Sequencing of Hulunbuir Short-Tailed Sheep for Identifying Candidate Genes Related to t[...]
1 Additional References
GP00002289
Tbxt
P20293
Morphology
c.G334T p.G112W
Ovis aries
sheep - (species)
Ovis aries
sheep - (species) D
TBXT
Ovis aries
sheep - (species)
Published - Accepted by Curator
TMEM154
Pathogen resistance (lentivirus)
Coding,
SNP
Ovis aries
sheep - (species) D
Intraspecific
Association Mapping
Heaton MP; Clawson ML; Chitko-Mckown CG ; et al. (2012)
Reduced lentivirus susceptibility in sheep with TMEM154 mutations.
GP00002242
TMEM154
Q6P9G4
Physiology
Mutation at conserved position associated to resistance in homozygous state
Ovis aries
sheep - (species)
Ovis aries
sheep - (species) D
TMEM154
Ovis aries
sheep - (species)
Published - Accepted by Curator
tyrosinase-related protein 1 (TYRP1)
Coloration (coat)
Coding,
SNP
Ovis aries
sheep - (species) D
Domesticated
Linkage Mapping
Gratten J; Beraldi D; Lowder BV ; et al. (2007)
Compelling evidence that a single nucleotide substitution in TYRP1 is responsible for coat-colour po[...]
GP00001156
Tyrp1
P07147
Morphology
c. 869G>T p.C290F ; Cys residue involved shows a high degree of evolutionary conservation; it is conserved not only across vertebrates but also in the two paralogues of TYRP1, DCT and TYR
Ovis aries
sheep - (species)
Ovis aries
sheep - (species) D
tyrosinase-related protein 1 (TYRP1)
Ovis aries
sheep - (species)
Published - Accepted by Curator
tyrosinase-related protein 1 (TYRP1)
Coloration (coat)
Coding,
SNP
Ovis aries
sheep - (species) D
Domesticated
Linkage Mapping
Raadsma HW; Jonas E; Fleet MR ; et al. (2013)
QTL and association analysis for skin and fibre pigmentation in sheep provides evidence of a major c[...]
GP00002237
Tyrp1
P07147
Morphology
c.2240C>G p.A746V
Ovis aries
sheep - (species)
Ovis aries
sheep - (species) D
tyrosinase-related protein 1 (TYRP1)
Ovis aries
sheep - (species)
Published - Accepted by Curator
tyrosinase-related protein 1 (TYRP1)
Coloration (coat)
Coding,
Deletion
N
Ovis aries
sheep - (species) D
Domesticated
Linkage Mapping
Paris JM; Letko A; Häfliger IM ; et al. (2019)
Identification of two TYRP1 loss-of-function alleles in Valais Red sheep.
GP00002238
Tyrp1
P07147
Morphology
c.86_87delGA p.(Glu29ValfsTer5) N
Ovis aries
sheep - (species)
Ovis aries
sheep - (species) D
tyrosinase-related protein 1 (TYRP1)
Ovis aries
sheep - (species)
Published - Accepted by Curator
tyrosinase-related protein 1 (TYRP1)
Coloration (coat)
Coding,
SNP
N
Ovis aries
sheep - (species) D
Domesticated
Linkage Mapping
Paris JM; Letko A; Häfliger IM ; et al. (2019)
Identification of two TYRP1 loss-of-function alleles in Valais Red sheep.
GP00002239
Tyrp1
P07147
Morphology
c.1066C>T p.(Arg356*) N
Ovis aries
sheep - (species)
Ovis aries
sheep - (species) D
tyrosinase-related protein 1 (TYRP1)
Ovis aries
sheep - (species)
Published - Accepted by Curator