C57BL/6JCya-Gucy2dem1/Cya
Common Name:
Gucy2d-KO
Product ID:
S-KO-18326
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
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Contact for Pricing
Basic Information
Strain Name
Gucy2d-KO
Strain ID
KOCMP-14918-Gucy2d-B6J-VB
Gene Name
Product ID
S-KO-18326
Gene Alias
--
Background
C57BL/6JCya
NCBI ID
Modification
Conventional knockout
Chromosome
7
Phenotype
Document
Application
--
Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Gucy2dem1/Cya mice (Catalog S-KO-18326) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000206435
NCBI RefSeq
NM_001130693
Target Region
Exon 9~19
Size of Effective Region
~19.6 kb
Detailed Document
Overview of Gene Research
GUCY2D, encoding photoreceptor guanylate cyclase GC-E, is crucial in phototransduction. It synthesizes cGMP, the intracellular messenger of photoreceptor excitation, and is regulated by GCAPs [1]. Mutations in GUCY2D are associated with various retinopathies, making it a key gene in understanding retinal diseases [1,2,3,4,5,6]. Animal models, like knockout mouse and chicken models, have been used to study GUCY2D-related retinal guanylate cyclase deficiency [1].
These animal models have been instrumental in gene augmentation therapy research. For example, gene replacement therapy in knockout mouse and chicken models of GUCY2D-related deficiency showed promising results, indicating potential therapeutic approaches for human diseases [1]. In patients, mutations in GUCY2D can cause autosomal recessive Leber congenital amaurosis (LCA) and autosomal dominant cone-rod degeneration (adCRD) [1]. LCA-causing mutations often lead to reduced or absent cGMP synthesis, while CRD-causing mutations shift the Ca2+-sensitivity of the GC-E-GCAP complex [1].
In conclusion, GUCY2D is essential for normal phototransduction through its role in cGMP synthesis. Gene knockout animal models have been valuable in revealing its function and developing gene-based therapies for LCA and adCRD, highlighting the importance of GUCY2D research in understanding and treating retinal diseases.
References:
1. Sharon, Dror, Wimberg, Hanna, Kinarty, Yael, Koch, Karl-Wilhelm. 2017. Genotype-functional-phenotype correlations in photoreceptor guanylate cyclase (GC-E) encoded by GUCY2D. In Progress in retinal and eye research, 63, 69-91. doi:10.1016/j.preteyeres.2017.10.003. https://pubmed.ncbi.nlm.nih.gov/29061346/
2. Boye, Shannon E. . A Mini-review: Animal Models of GUCY2D Leber Congenital Amaurosis (LCA1). In Advances in experimental medicine and biology, 854, 253-8. doi:10.1007/978-3-319-17121-0_34. https://pubmed.ncbi.nlm.nih.gov/26427419/
3. Yi, Zhen, Sun, Wenmin, Xiao, Xueshan, Wang, Panfeng, Zhang, Qingjiong. 2021. Novel variants in GUCY2D causing retinopathy and the genotype-phenotype correlation. In Experimental eye research, 208, 108637. doi:10.1016/j.exer.2021.108637. https://pubmed.ncbi.nlm.nih.gov/34048777/
4. Rodilla, Cristina, Martín-Merida, Inmaculada, Blanco-Kelly, Fiona, Ayuso, Carmen, Corton, Marta. 2023. Comprehensive Genotyping and Phenotyping Analysis of GUCY2D-Associated Rod- and Cone-Dominated Dystrophies. In American journal of ophthalmology, 254, 87-103. doi:10.1016/j.ajo.2023.05.015. https://pubmed.ncbi.nlm.nih.gov/37327959/
5. Boye, Shannon E. 2014. Leber congenital amaurosis caused by mutations in GUCY2D. In Cold Spring Harbor perspectives in medicine, 5, a017350. doi:10.1101/cshperspect.a017350. https://pubmed.ncbi.nlm.nih.gov/25256176/
6. Neubauer, Jonas, Hahn, Leo, Birtel, Johannes, Charbel Issa, Peter, Fischer, M Dominik. 2022. GUCY2D-Related Retinal Dystrophy with Autosomal Dominant Inheritance-A Multicenter Case Series and Review of Reported Data. In Genes, 13, . doi:10.3390/genes13020313. https://pubmed.ncbi.nlm.nih.gov/35205358/
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