C57BL/6JCya-Mc2rem1flox/Cya
Common Name:
Mc2r-flox
Product ID:
S-CKO-03673
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
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Basic Information
Strain Name
Mc2r-flox
Strain ID
CKOCMP-17200-Mc2r-B6J-VA
Gene Name
Product ID
S-CKO-03673
Gene Alias
ACTH-R; ACTHR; MC2-R
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
18
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Mc2rem1flox/Cya mice (Catalog S-CKO-03673) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000052347
NCBI RefSeq
NM_008560
Target Region
Exon 3
Size of Effective Region
~1.4 kb
Detailed Document
Overview of Gene Research
Mc2r, also known as the adrenocorticotropic hormone receptor (ACTHR), is a member of the G protein-coupled receptor family and is a type of melanocortin receptor. It is uniquely activated by adrenocorticotropic hormone (ACTH) and is crucial in the hypothalamic-pituitary-adrenal (HPA) axis. This axis is involved in regulating stress responses, metabolism, and immune function. Its function is also associated with the biosynthesis of glucocorticoids [1,4].
Mutations in the Mc2r gene can lead to type 1 familial glucocorticoid deficiency (FGD). For example, a novel homozygous missense mutation c.326T>A, p.Leu109Gln in the Mc2R gene disrupts cAMP production and protein expression, resulting in ACTH resistance and FGD phenotypes [2]. Also, a novel class of nonpeptide Mc2r antagonists like CRN04894 has been discovered, which may be used to treat ACTH-dependent diseases such as congenital adrenal hyperplasia (CAH) and Cushing's disease (CD) [3]. In cows, ACTH treatment can affect the expression of the Mc2R/MRAP2 complex in the dominant follicle, altering the expression of steroidogenic enzymes [4].
In conclusion, Mc2r is essential for normal physiological function through its role in the HPA axis and glucocorticoid biosynthesis. Studies on gene mutations and the discovery of antagonists have provided insights into its function in diseases like FGD, CAH, and Cushing's disease. Understanding Mc2r helps in elucidating the mechanisms of related diseases and developing potential treatment strategies.
References:
1. Fridmanis, Davids, Roga, Ance, Klovins, Janis. 2017. ACTH Receptor (MC2R) Specificity: What Do We Know About Underlying Molecular Mechanisms? In Frontiers in endocrinology, 8, 13. doi:10.3389/fendo.2017.00013. https://pubmed.ncbi.nlm.nih.gov/28220105/
2. Mohammed, Idris, Haris, Basma, Hussain, Khalid. 2022. A Novel Homozygous MC2R Variant Leading to Type-1 Familial Glucocorticoid Deficiency. In Journal of the Endocrine Society, 6, bvac058. doi:10.1210/jendso/bvac058. https://pubmed.ncbi.nlm.nih.gov/35506146/
3. Kim, Sun Hee, Han, Sangdon, Zhao, Jian, Zhu, Yunfei, Betz, Stephen F. 2024. Discovery of CRN04894: A Novel Potent Selective MC2R Antagonist. In ACS medicinal chemistry letters, 15, 478-485. doi:10.1021/acsmedchemlett.3c00514. https://pubmed.ncbi.nlm.nih.gov/38628803/
4. Etchevers, L, Belotti, E M, Díaz, P U, Ortega, H H, Amweg, A N. 2021. MC2R/MRAP2 activation could affect bovine ovarian steroidogenesis potential after ACTH treatment. In Theriogenology, 174, 102-113. doi:10.1016/j.theriogenology.2021.08.020. https://pubmed.ncbi.nlm.nih.gov/34425302/
Quality Control Standard
Sperm Test
Pre-cryopreservation: Measurement of sperm concentration, determination of sperm viability.
Post-cryopreservation: A vial of cryopreserved sperms is selected for in-vitro fertilization from each batch.
Environmental Standards:SPF
Available Region:Global
Source:Cyagen