C57BL/6JCya-Mc2rem1/Cya
Common Name:
Mc2r-KO
Product ID:
S-KO-17873
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
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Basic Information
Strain Name
Mc2r-KO
Strain ID
KOCMP-17200-Mc2r-B6J-VA
Gene Name
Product ID
S-KO-17873
Gene Alias
ACTH-R; ACTHR; MC2-R
Background
C57BL/6JCya
NCBI ID
Modification
Conventional knockout
Chromosome
18
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Mc2rem1/Cya mice (Catalog S-KO-17873) 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
The melanocortin 2 receptor (MC2R), also known as the adrenocorticotropic hormone receptor (ACTHR), is a member of the G protein-coupled receptor family. It is selectively activated by adrenocorticotropic hormone (ACTH) and plays a crucial role in the hypothalamic-pituitary-adrenal (HPA) axis [1,2,3,4,5]. In this axis, it mediates responses to ACTH, which is vital for regulating glucocorticoid production, and thus is important for physiological stress responses, metabolism, and immune function [3].
Mutations in the MC2R gene can lead to type 1 familial glucocorticoid deficiency (FGD), an autosomal recessive disorder. For example, a novel homozygous missense mutation c.326T>A, p.Leu109Gln in the MC2R gene was found to disrupt cAMP production and MC2R protein expression, leading to ACTH resistance and FGD phenotypes [2]. Also, a homozygotic variant of c.712C>T/p.H238Y in MC2R was reported in a Chinese family with affected siblings showing features like skin hyperpigmentation, hyperbilirubinemia, tall stature, and congenital heart defects, expanding the genetic and clinical spectrum of FGD1 [4].
In conclusion, MC2R is essential for the proper functioning of the HPA axis and regulation of glucocorticoid synthesis. Studies on genetic mutations in MC2R, such as those causing FGD, have enhanced our understanding of the role of MC2R in maintaining normal physiological function and the pathophysiology of related diseases.
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. 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/
4. Liu, ShuPing, Zeng, Ting, Luo, Cheng, Lu, Qin, Huang, FuRong. 2023. A rare homozygous variant of MC2R gene identified in a Chinese family with familial glucocorticoid deficiency type 1: A case report. In Frontiers in endocrinology, 14, 1113234. doi:10.3389/fendo.2023.1113234. https://pubmed.ncbi.nlm.nih.gov/36909322/
5. Clark, Adrian John, Forfar, Rachel, Hussain, Mashal, Taylor, Debra, Chan, Li. 2016. ACTH Antagonists. In Frontiers in endocrinology, 7, 101. doi:10.3389/fendo.2016.00101. https://pubmed.ncbi.nlm.nih.gov/27547198/
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