C57BL/6JCya-Crygcem1flox/Cya
Common Name:
Crygc-flox
Product ID:
S-CKO-01893
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
Price:
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Basic Information
Strain Name
Crygc-flox
Strain ID
CKOCMP-12966-Crygc-B6J-VA
Gene Name
Product ID
S-CKO-01893
Gene Alias
Cryg-5
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-Crygcem1flox/Cya mice (Catalog S-CKO-01893) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000114064
NCBI RefSeq
NM_001082573
Target Region
Exon 3
Size of Effective Region
~1.2 kb
Detailed Document
Overview of Gene Research
Crygc, encoding γC-crystallin protein, is crucial for maintaining lens transparency. Crystallins are the major structural proteins in the eye lens, and their proper function is essential for clear vision. Mutations in Crygc are associated with congenital cataract, a significant cause of childhood blindness and amblyopia [1,3,4,5,6,7,8,9,10].
In mouse models, a dominant mutation in Crygc that causes cataracts could be rescued by coinjecting Cas9 mRNA and a single-guide RNA (sgRNA) targeting the mutant allele into zygotes. Correction occurred via homology-directed repair (HDR), based on an exogenously supplied oligonucleotide or the endogenous WT allele, demonstrating the potential of CRISPR-Cas9 system in correcting genetic diseases related to Crygc [2].
In human studies, various mutations in Crygc have been identified. For example, a de novo missense mutation at c.391T>C in exon 3 of CRYGC causes the substitution of a highly conserved tryptophan to an arginine (p.Trp131Arg), which can lead to changes in the tertiary structure of the crystallin family, making it prone to aggregation and resulting in cataract [1]. Another study identified a heterozygous frameshift mutation c.389_390insGCTG (p.C130fs) in a Chinese family with autosomal dominant congenital cataracts and microcornea [3].
In conclusion, Crygc is vital for maintaining lens transparency, and its mutations are closely associated with congenital cataract. Mouse models, especially those utilizing gene-editing techniques like CRISPR-Cas9, have provided valuable insights into the role of Crygc in cataract-related diseases, offering potential directions for genetic diagnosis and treatment.
References:
1. Delas, Flora, Koller, Samuel, Feil, Silke, Gerth-Kahlert, Christina, Berger, Wolfgang. 2023. Novel CRYGC Mutation in Conserved Ultraviolet-Protective Tryptophan (p.Trp131Arg) Is Linked to Autosomal Dominant Congenital Cataract. In International journal of molecular sciences, 24, . doi:10.3390/ijms242316594. https://pubmed.ncbi.nlm.nih.gov/38068917/
2. Wu, Yuxuan, Liang, Dan, Wang, Yinghua, Li, Dangsheng, Li, Jinsong. . Correction of a genetic disease in mouse via use of CRISPR-Cas9. In Cell stem cell, 13, 659-62. doi:10.1016/j.stem.2013.10.016. https://pubmed.ncbi.nlm.nih.gov/24315440/
3. Zhou, Zhenbao, Zhao, Liying, Guo, Yanqin, Liu, Jieting, Wang, Libo. 2021. A Novel Mutation in CRYGC Mutation Associated with Autosomal Dominant Congenital Cataracts and Microcornea. In Ophthalmology science, 2, 100093. doi:10.1016/j.xops.2021.100093. https://pubmed.ncbi.nlm.nih.gov/36246175/
4. González-Huerta, Luz Ma, Messina-Baas, Olga, Urueta, Héctor, Toral-López, Jaime, Cuevas-Covarrubias, Sergio A. 2013. A CRYGC gene mutation associated with autosomal dominant pulverulent cataract. In Gene, 529, 181-5. doi:10.1016/j.gene.2013.07.044. https://pubmed.ncbi.nlm.nih.gov/23954869/
5. Kandaswamy, Dinesh Kumar, Vasantha, K, Graw, Jochen, Santhiya, Sathiyaveedu Thyagarajan. 2020. A novel CRYGC E128* mutation underlying an autosomal dominant nuclear cataract in a south Indian kindred. In Ophthalmic genetics, 41, 556-562. doi:10.1080/13816810.2020.1807027. https://pubmed.ncbi.nlm.nih.gov/32811259/
6. Zhong, Zilin, Wu, Zehua, Han, Liyun, Chen, Jianjun. 2017. Novel mutations in CRYGC are associated with congenital cataracts in Chinese families. In Scientific reports, 7, 189. doi:10.1038/s41598-017-00318-1. https://pubmed.ncbi.nlm.nih.gov/28298635/
7. Peng, Yu, Zheng, Yu, Deng, Zifeng, Tao, Lijuan, Luo, Yulin. 2022. Case Report: A de novo Variant of CRYGC Gene Associated With Congenital Cataract and Microphthalmia. In Frontiers in genetics, 13, 866246. doi:10.3389/fgene.2022.866246. https://pubmed.ncbi.nlm.nih.gov/35719371/
8. Zhang, Jing, Sun, Donglan, Wang, Yacong, Peng, Yuanyuan, Mi, Dongqing. . [Identification of a novel CRYGC mutation in a pedigree affected with congenital cataracts]. In Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 36, 697-700. doi:10.3760/cma.j.issn.1003-9406.2019.07.010. https://pubmed.ncbi.nlm.nih.gov/31302914/
9. Guo, Yuanyuan, Su, Dongmei, Li, Qian, Ma, Xu, Zhu, Siquan. 2012. A nonsense mutation of CRYGC associated with autosomal dominant congenital nuclear cataracts and microcornea in a Chinese pedigree. In Molecular vision, 18, 1874-80. doi:. https://pubmed.ncbi.nlm.nih.gov/22876111/
10. Zhou, Lin, Wang, Ganghua, Hu, Bin, Jiang, Fanwen, Xu, Zhuping. 2023. Microphthalmia and anterior segment dysgenesis due to a double gene variant in GJA8 and CRYGC. In European journal of ophthalmology, 34, NP12-NP17. doi:10.1177/11206721231163611. https://pubmed.ncbi.nlm.nih.gov/36916241/
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