C57BL/6JCya-Chrngem1flox/Cya
Common Name:
Chrng-flox
Product ID:
S-CKO-00985
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
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Basic Information
Strain Name
Chrng-flox
Strain ID
CKOCMP-11449-Chrng-B6J-VA
Gene Name
Product ID
S-CKO-00985
Gene Alias
Achr-3; Acrg
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
1
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Chrngem1flox/Cya mice (Catalog S-CKO-00985) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000027470
NCBI RefSeq
NM_009604
Target Region
Exon 5~9
Size of Effective Region
~3.1 kb
Detailed Document
Overview of Gene Research
Chrng, encoding the γ subunit of the embryonal acetylcholine receptor, is crucial for normal neuromuscular function. The nicotinic acetylcholine receptor at the neuromuscular junction is involved in neuromuscular signal transmission, and Chrng's role in this process is essential for proper muscle movement and development [2].
Mutations in Chrng cause autosomal recessive multiple pterygium syndrome (MPS), with a distinctive phenotype of multiple congenital contractures, pterygium, and facial dysmorphism. Postnatal abnormalities at the neuromuscular junction are seen in affected patients' muscle biopsies. Whole-body magnetic resonance imaging shows marked muscle bulk reduction, mainly in spinal erector and gluteus maximus muscles, with fatty infiltration in deep paravertebral and distal lower limb muscles [1]. Germline mutations in Chrng can lead to non-lethal Escobar variant (EVMPS) or lethal form (LMPS) of MPS, and also present with fetal akinesia deformation sequence (FADS) without pterygia. The mutation spectrum is similar in EVMPS and LMPS/FADS kindreds, and there is interfamilial variability in the severity of the phenotype [3,4].
In conclusion, Chrng is vital for normal neuromuscular function. Its mutations are associated with multiple pterygium syndrome, highlighting its significance in understanding the pathophysiology of this disorder. The study of Chrng-related mutations helps in better defining the phenotypic spectrum of the disease, which may aid in differentiating it from other similar conditions and potentially in developing targeted therapies [1,3,4].
References:
1. Carrera-García, Laura, Natera-de Benito, Daniel, Dieterich, Klaus, Quijano-Roy, Susana, Nascimento, Andres. 2019. CHRNG-related nonlethal multiple pterygium syndrome: Muscle imaging pattern and clinical, histopathological, and molecular genetic findings. In American journal of medical genetics. Part A, 179, 915-926. doi:10.1002/ajmg.a.61122. https://pubmed.ncbi.nlm.nih.gov/30868735/
2. Ohno, Kinji, Ohkawara, Bisei, Shen, Xin-Ming, Selcen, Duygu, Engel, Andrew G. 2023. Clinical and Pathologic Features of Congenital Myasthenic Syndromes Caused by 35 Genes-A Comprehensive Review. In International journal of molecular sciences, 24, . doi:10.3390/ijms24043730. https://pubmed.ncbi.nlm.nih.gov/36835142/
3. Vogt, Julie, Morgan, Neil V, Rehal, Pauline, MacDonald, Fiona, Maher, Eamonn R. . CHRNG genotype-phenotype correlations in the multiple pterygium syndromes. In Journal of medical genetics, 49, 21-6. doi:10.1136/jmedgenet-2011-100378. https://pubmed.ncbi.nlm.nih.gov/22167768/
4. Kariminejad, Ariana, Almadani, Navid, Khoshaeen, Atefeh, Moslemi, Ali-Reza, Tajsharghi, Homa. 2016. Truncating CHRNG mutations associated with interfamilial variability of the severity of the Escobar variant of multiple pterygium syndrome. In BMC genetics, 17, 71. doi:10.1186/s12863-016-0382-5. https://pubmed.ncbi.nlm.nih.gov/27245440/
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