Type |
Details |
Score |
GXD Expression |
Probe: |
MGI:4884432 |
Assay Type: |
RNA in situ |
Annotation Date: |
2011-04-11 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:1757723 |
Pattern: |
Regionally restricted |
Stage: |
TS23 |
Assay Id: |
MGI:4944822 |
Age: |
embryonic day 15.5 |
Image: |
g00245 E15.5 |
Note: |
Expression was region specific and scattered. |
Specimen Label: |
g00245 E15.5 |
Detected: |
true |
Specimen Num: |
2 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:4884432 |
Assay Type: |
RNA in situ |
Annotation Date: |
2011-04-11 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:1757728 |
Pattern: |
Widespread |
Stage: |
TS28 |
Assay Id: |
MGI:4944822 |
Age: |
postnatal day 7 |
Image: |
g00245 P7 |
|
Specimen Label: |
g00245 P7 |
Detected: |
true |
Specimen Num: |
3 |
|
•
•
•
•
•
|
Publication |
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1995 |
Journal: |
Genet Res |
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Thirteen genes (Cebpb, E2f1, Tcf4, Cyp24, Pck1, Acra4, Edn3, Kcnb1, Mc3r, Ntsr, Cd40, Plcg1 and Rcad) that probably lie in the distal imprinting region of mouse chromosome 2 are not monoallelically expressed. |
Volume: |
65 |
Issue: |
2 |
Pages: |
83-93 |
|
•
•
•
•
•
|
Publication |
First Author: |
Vagena E |
Year: |
2022 |
Journal: |
Sci Signal |
Title: |
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Volume: |
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Issue: |
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Pages: |
eabj8204 |
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Publication |
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Publication |
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Year: |
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Journal: |
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Title: |
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Volume: |
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Issue: |
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Pages: |
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Issue: |
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Volume: |
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Pages: |
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Publication |
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Year: |
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Journal: |
Nat Genet |
Title: |
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Volume: |
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Pages: |
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Publication |
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Journal: |
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Pages: |
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Nat Neurosci |
Title: |
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Volume: |
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Pages: |
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Journal: |
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Pages: |
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Publication |
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Title: |
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Nat Neurosci |
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Title: |
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Year: |
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Journal: |
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Title: |
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Title: |
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Title: |
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MGI Direct Data Submission |
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MGI Direct Data Submission |
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Alleles produced for the KOMP project by Velocigene (Regeneron Pharmaceuticals) |
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•
|
Allele |
Name: |
melanocortin 3 receptor; endonuclease-mediated mutation 1, Shanghai Model Organisms Center |
Allele Type: |
Endonuclease-mediated |
Attribute String: |
Null/knockout |
|
•
•
•
•
•
|
Strain |
Attribute String: |
coisogenic, mutant strain, endonuclease-mediated mutation |
|
•
•
•
•
•
|
Allele |
Name: |
melanocortin 3 receptor; targeted mutation 1.1, David P Olson |
Allele Type: |
Targeted |
Attribute String: |
Recombinase |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Mc3r/Mc3r<+> |
Background: |
Not Specified |
Zygosity: |
ht |
Has Mutant Allele: |
true |
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Allele |
Name: |
transgene insertion, Roger D Cone |
Allele Type: |
Transgenic |
Attribute String: |
Recombinase |
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Publication |
First Author: |
Ollmann MM |
Year: |
1997 |
Journal: |
Science |
Title: |
Antagonism of central melanocortin receptors in vitro and in vivo by agouti-related protein. |
Volume: |
278 |
Issue: |
5335 |
Pages: |
135-8 |
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Genotype |
Symbol: |
Mc3r/Mc3r<+> Gt(ROSA)26Sor/Gt(ROSA)26Sor<+> |
Background: |
involves: 129S6/SvEvTac * C57BL/6NCrl |
Zygosity: |
cn |
Has Mutant Allele: |
true |
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Genotype |
Symbol: |
Gad1/Gad1<+> Gt(ROSA)26Sor/Gt(ROSA)26Sor<+> Mc3r/Mc3r<+> |
Background: |
involves: 129S6/SvEvTac * C57BL/6NCrl * CBA/JNCrlj |
Zygosity: |
cn |
Has Mutant Allele: |
true |
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Publication |
First Author: |
McNulty JC |
Year: |
2005 |
Journal: |
J Mol Biol |
Title: |
Structures of the agouti signaling protein. |
Volume: |
346 |
Issue: |
4 |
Pages: |
1059-70 |
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Publication |
First Author: |
Voisey J |
Year: |
2003 |
Journal: |
Pigment Cell Res |
Title: |
Agouti signal protein regulation in human melanoma cells. |
Volume: |
16 |
Issue: |
1 |
Pages: |
65-71 |
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Publication |
First Author: |
McNulty JC |
Year: |
2001 |
Journal: |
Biochemistry |
Title: |
High-resolution NMR structure of the chemically-synthesized melanocortin receptor binding domain AGRP(87-132) of the agouti-related protein. |
Volume: |
40 |
Issue: |
51 |
Pages: |
15520-7 |
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Publication |
First Author: |
Lembertas AV |
Year: |
1997 |
Journal: |
J Clin Invest |
Title: |
Identification of an obesity quantitative trait locus on mouse chromosome 2 and evidence of linkage to body fat and insulin on the human homologous region 20q. |
Volume: |
100 |
Issue: |
5 |
Pages: |
1240-7 |
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Publication |
First Author: |
Corander MP |
Year: |
2011 |
Journal: |
Endocrinology |
Title: |
Loss of agouti-related peptide does not significantly impact the phenotype of murine POMC deficiency. |
Volume: |
152 |
Issue: |
5 |
Pages: |
1819-28 |
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Publication |
First Author: |
Haskell-Luevano C |
Year: |
2009 |
Journal: |
FASEB J |
Title: |
Voluntary exercise prevents the obese and diabetic metabolic syndrome of the melanocortin-4 receptor knockout mouse. |
Volume: |
23 |
Issue: |
2 |
Pages: |
642-55 |
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Publication |
First Author: |
Tung YC |
Year: |
2006 |
Journal: |
Endocrinology |
Title: |
A comparative study of the central effects of specific proopiomelancortin (POMC)-derived melanocortin peptides on food intake and body weight in pomc null mice. |
Volume: |
147 |
Issue: |
12 |
Pages: |
5940-7 |
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Publication |
First Author: |
Getting SJ |
Year: |
2006 |
Journal: |
Mol Pharmacol |
Title: |
[D-Trp8]-gamma-melanocyte-stimulating hormone exhibits anti-inflammatory efficacy in mice bearing a nonfunctional MC1R (recessive yellow e/e mouse). |
Volume: |
70 |
Issue: |
6 |
Pages: |
1850-5 |
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Protein Domain |
Type: |
Homologous_superfamily |
Description: |
The agouti signaling protein (ASIP or the agouti protein) and its neuropeptide homologue the agouti-related protein (AgRP) are paracrine signaling molecules that act as inverse agonists at distinct subsets of melanocortin receptors. ASIP antagonizes the binding of alpha-melanocyte stimulating hormone (alpha-MSH) to melanocortin 1 receptor (MC1R), switching melanin synthesis from eumelanin (black/brown) to phaeomelanin (red/yellow). The effect of ASIP on pigment type-switching is responsible for a variety of coat color patterns accross a broad range of mammalian species. AgRP is involved in energy balance and acts normally at the MC3R and MC4R to control body weight regulation and metabolism [, ].Sequence similarity between ASIP and AgRP is confined to their Cys-rich C-terminal domains, which are also responsible for melanocortin receptor binding activity in vitro. Approximately 40 residues in length, there are ten cysteine residues in the C-terminal domain that form a network of five disulfide bonds. The agouti C-terminal domain contains a three-stranded antiparallel beta sheet, where the last two strands form a beta hairpin. The hairpin's turn region presents a triplet of residues (Arg-Phe-Phe) known to be essential for melanocortin receptor binding. The agouti C-terminal domain adopts the inhibitor cystine knot (ICK) or knottin fold identified in numerous invertebrate toxins [, ].The agouti domain covers the 10 cysteines involved in disulfide bonds. |
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Protein Domain |
Type: |
Domain |
Description: |
The agouti signaling protein (ASIP or the agouti protein) and its neuropeptide homologue the agouti-related protein (AgRP) are paracrine signaling molecules that act as inverse agonists at distinct subsets of melanocortin receptors. ASIP antagonizes the binding of alpha-melanocyte stimulating hormone (alpha-MSH) to melanocortin 1 receptor (MC1R), switching melanin synthesis from eumelanin (black/brown) to phaeomelanin (red/yellow). The effect of ASIP on pigment type-switching is responsible for a variety of coat color patterns accross a broad range of mammalian species. AgRP is involved in energy balance and acts normally at the MC3R and MC4R to control body weight regulation and metabolism [, ].Sequence similarity between ASIP and AgRP is confined to their Cys-rich C-terminal domains, which are also responsible for melanocortin receptor binding activity in vitro. Approximately 40 residues in length, there are ten cysteine residues in the C-terminal domain that form a network of five disulfide bonds. The agouti C-terminal domain contains a three-stranded antiparallel beta sheet, where the last two strands form a beta hairpin. The hairpin's turn region presents a triplet of residues (Arg-Phe-Phe) known to be essential for melanocortin receptor binding. The agouti C-terminal domain adopts the inhibitor cystine knot (ICK) or knottin fold identified in numerous invertebrate toxins [, ].This entry represents the agouti domain which covers the 10 cysteines involved in disulfide bonds. |
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Publication |
First Author: |
Areda T |
Year: |
2006 |
Journal: |
Behav Brain Res |
Title: |
Cat odour exposure decreases exploratory activity and alters neuropeptide gene expression in CCK(2) receptor deficient mice, but not in their wild-type littermates. |
Volume: |
169 |
Issue: |
2 |
Pages: |
212-9 |
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Protein |
Organism: |
Mus musculus/domesticus |
Length: |
131
 |
Fragment?: |
false |
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Protein |
Organism: |
Mus musculus/domesticus |
Length: |
131
 |
Fragment?: |
false |
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Protein |
Organism: |
Mus musculus/domesticus |
Length: |
131
 |
Fragment?: |
false |
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Protein |
Organism: |
Mus musculus/domesticus |
Length: |
118
 |
Fragment?: |
true |
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Publication |
First Author: |
Delhanty PJ |
Year: |
2014 |
Journal: |
Mol Biol Rep |
Title: |
Functional characterization of a new human melanocortin-4 receptor homozygous mutation (N72K) that is associated with early-onset obesity. |
Volume: |
41 |
Issue: |
12 |
Pages: |
7967-72 |
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Publication |
First Author: |
Xu Y |
Year: |
2020 |
Journal: |
Cell Mol Life Sci |
Title: |
Melanocortin 5 receptor signaling pathway in health and disease. |
Volume: |
77 |
Issue: |
19 |
Pages: |
3831-3840 |
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Publication |
First Author: |
Farooqi IS |
Year: |
2003 |
Journal: |
N Engl J Med |
Title: |
Clinical spectrum of obesity and mutations in the melanocortin 4 receptor gene. |
Volume: |
348 |
Issue: |
12 |
Pages: |
1085-95 |
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Publication |
First Author: |
Sebag JA |
Year: |
2013 |
Journal: |
Science |
Title: |
Developmental control of the melanocortin-4 receptor by MRAP2 proteins in zebrafish. |
Volume: |
341 |
Issue: |
6143 |
Pages: |
278-81 |
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Protein Domain |
Type: |
Family |
Description: |
G protein-coupled receptors (GPCRs) constitute a vast protein family that encompasses a wide range of functions, including various autocrine, paracrine and endocrine processes. They show considerable diversity at the sequence level, on the basis of which they can be separated into distinct groups []. The term clan can be used to describe the GPCRs, as they embrace a group of families for which there are indications of evolutionary relationship, but between which there is no statistically significant similarity in sequence []. The currently known clan members include rhodopsin-like GPCRs (Class A, GPCRA), secretin-like GPCRs (Class B, GPCRB), metabotropic glutamate receptor family (Class C, GPCRC), fungal mating pheromone receptors (Class D, GPCRD), cAMP receptors (Class E, GPCRE) and frizzled/smoothened (Class F, GPCRF) [, , , , ]. GPCRs are major drug targets, and are consequently the subject of considerable research interest. It has been reported that the repertoire of GPCRs for endogenous ligands consists of approximately 400 receptors in humans and mice []. Most GPCRs are identified on the basis of their DNA sequences, rather than the ligand they bind, those that are unmatched to known natural ligands are designated by as orphan GPCRs, or unclassified GPCRs [].The rhodopsin-like GPCRs (GPCRA) represent a widespread protein family that includes hormone, neurotransmitter and light receptors, all of which transduce extracellular signals through interaction with guanine nucleotide-binding (G) proteins. Although their activating ligands vary widely in structure and character, the amino acid sequences of the receptors are very similar and are believed to adopt a common structural framework comprising 7 transmembrane (TM) helices [, , ].Adrenocorticotrophin (ACTH), melanocyte-stimulating hormones (MSH) andbeta-endorphin are peptide products of pituitary pro-opiomelanocortin.ACTH regulates synthesis and release of glucocorticoids and aldosteronein the adrenal cortex; it also has a trophic action on these cells.ACTH and beta-endorphin are synthesised and released in response tocorticotrophin-releasing factor at times of stress (heat, cold, infections,etc.) - their release leads to increased metabolism and analgesia.MSH has a trophic action on melanocytes, and regulates pigment productionin fish and amphibia. The ACTH receptor is found in high levels inthe adrenal cortex - binding sites are present in lower levels in theCNS. The MSH receptor is expressed in high levels in melanocytes,melanomas and their derived cell lines. Receptors are found in lowlevels in the CNS. MSH regulates temperature control in the septal regionof the brain and releases prolactin from the pituitary.This entry represents Melanocortin receptor 3-5 (MC3-5R) from chordates. These protein are receptors for MSH (alpha, beta and gamma) and ACTH. The activity of this receptor is mediated by G proteins which activate adenylate cyclase. MC3R is required for expression of anticipatory patterns of activity and wakefulness during periods of limited nutrient availability and for the normal regulation of circadian clock activity in the brain []. MC4R plays a central role in energy homeostasis and somatic growth [, , ]. MC5R is a possible mediator of the immunomodulation properties of melanocortins, playing a role in immune reaction and inflammatory response as well as in the regulation of sexual behaviour, thermoregulation, and exocrine secretion []. |
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Protein |
Organism: |
Mus musculus/domesticus |
Length: |
136
 |
Fragment?: |
true |
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