Logo
Homepage
Explore Our Models
My Cart
Contact
Subscribe
Models
Genetically Engineered Animals
Knockout Mice
Knockout Rats
Knockin Mice
Knockin Rats
Transgenic Mice
Transgenic Rats
Model Generation Techniques
Turboknockout<sup>®</sup> Gene Targeting
ES Cell Gene Targeting
Targeted Gene Editing
Regular Transgenic
PiggyBac Transgenesis
BAC Transgenic
Research Models
HUGO-GT™ Humanized Mice
Cre Mouse Lines
Humanized Target Gene Models
Metabolic Disease Models
Ophthalmic Disease Models
Neurological Disease Models
Autoimmune Disease Models
Immunodeficient Mouse Models
Humanized Immune System Mouse Models
Oncology & Immuno-oncology Models
Covid-19 Mouse Models
MouseAtlas Model Library
Knockout Cell Line Product Catalog
Tumor Cell Line Product Catalog
AAV Standard Product Catalog
Animal Supporting Services
Breeding Services
Cryopreservation & Recovery
Phenotyping Services
BAC Modification
Custom Cell Line Models
Induced Pluripotent Stem Cells (iPSCs)
Knockout Cell Lines
Knockin Cell Lines
Point Mutation Cell Lines
Overexpression Cell Lines
Virus Packaging
Adeno-associated Virus (AAV) Packaging
Lentivirus Packaging
Adenovirus Packaging
CRO Services
By Therapeutic Area
Oncology
Ophthalmology
Neuroscience
Metabolic & Cardiovascular Diseases
Autoimmune & Inflammatory
By Drug Type
AI-Powered AAV Discovery
Gene Therapy
Oligonucleotide Therapy
Antibody Therapy
Cell Immunotherapy
Resources
Promotion
Events & Webinars
Newsroom
Blogs & Insights
Resource Vault
Reference Databases
Peer-Reviewed Citations
Rare Disease Data Center
AbSeek
Cell iGeneEditor™ System
OriCell
Quality
Facility Overview
Animal Health & Welfare
Health Reports
About Us
Corporate Overview
Our Partners
Careers
Contact Us
Login
Request a Product Quote
Select products from our catalogs and submit your request. Our team will get back to you with detailed information.
Full Name
Email
Phone Number
Organization
Job Role
Country
Catalog Type
Product Name
Additional Comments
Cyagen values your privacy. We’d like to keep you informed about our latest offerings and insights. Your preferences:
You may unsubscribe from these communications at any time. See our Privacy Policy for details on opting out and data protection.
By clicking the button below, you consent to allow Cyagen to store and process the personal information submitted in this form to provide you the content requested.
C57BL/6JCya-Gucy2dem1/Cya
Common Name:
Gucy2d-KO
Product ID:
S-KO-18326
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
Price:
Contact for Pricing
Basic Information
Strain Name
Gucy2d-KO
Strain ID
KOCMP-14918-Gucy2d-B6J-VB
Gene Name
Gucy2d
Product ID
S-KO-18326
Gene Alias
--
Background
C57BL/6JCya
NCBI ID
14918
Modification
Conventional knockout
Chromosome
7
Phenotype
MGI:106030
Document
Click here to download >>
Application
--
More
Rare Disease Data Center >>
Note
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
Click here to download >>
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
Model Library
Model Library
Resources
Resources
Animal Quality
Animal Quality
Get Support
Get Support
Address:
2255 Martin Avenue, Suite E Santa Clara, CA 95050-2709, US
Tel:
800-921-8930 (8-6pm PST)
+1408-963-0306 (lnt’l)
Fax:
408-969-0338
Email:
animal-service@cyagen.com
service@cyagen.us
CRO Services
OncologyOphthalmologyNeuroscienceMetabolic & CardiovascularAutoimmune & InflammatoryGene TherapyAntibody Therapy
About Us
Corporate OverviewOur PartnersCareersContact Us
Social Media
Disclaimer: Pricing and availability of our products and services vary by region. Listed prices are applicable to the specific countries. Please contact us for more information.
Copyright © 2025 Cyagen. All rights reserved.
Privacy Policy
Site Map
Stay Updated with the Latest from Cyagen
Get the latest news on our research models, CRO services, scientific resources, and special offers—tailored to your research needs and delivered straight to your inbox.
Full Name
Email
Organization
Country
Areas of Interest