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-Gnat1em1/Cya
Common Name:
Gnat1-KO
Product ID:
S-KO-16009
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
Price:
Contact for Pricing
Basic Information
Strain Name
Gnat1-KO
Strain ID
KOCMP-14685-Gnat1-B6J-VA
Gene Name
Gnat1
Product ID
S-KO-16009
Gene Alias
Gnat-1; Hg1f; Ird1; Ird2; Tralpha; irdc; irdr; transducin
Background
C57BL/6JCya
NCBI ID
14685
Modification
Conventional knockout
Chromosome
9
Phenotype
MGI:95778
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-Gnat1em1/Cya mice (Catalog S-KO-16009) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000010205
NCBI RefSeq
NM_008140
Target Region
Exon 1~8
Size of Effective Region
~4.0 kb
Detailed Document
Click here to download >>
Overview of Gene Research
GNAT1, encoding the rod-specific transducin α-subunit, is a key element in the rod phototransduction cascade [2,3]. Phototransduction is the process by which light is converted into electrical signals in the retina, crucial for vision. Mutations in GNAT1 are associated with congenital stationary night blindness (CSNB) and other retinal disorders, highlighting its importance in maintaining normal visual function [1,2,3]. Genetic models, such as gene knockout mice, have been valuable in studying its function.

In a consanguineous Pakistani family, a missense mutation in GNAT1 (p.D129G) was associated with autosomal recessive stationary night blindness [2]. A Japanese family with Nougaret-type CSNB and cone-rod dystrophy (CORD) had a GNAT1 variant (p.G38D), and co-existence of GNAT1 and biallelic ABCA4 variants was associated with an overlapping phenotype of CSNB and CORD [1]. A novel homozygous truncating mutation in GNAT1 was found in a patient with retinitis pigmentosa, indicating it can cause late-onset retinal degeneration [3]. In Gnat1-/-mice, constitutively depolarized rods release excessive glutamate, accelerating deep plexus angiogenesis and paracellular blood-retinal barrier maturation [4]. Also, in Gnat1-/ -; Gnat2cpfl3/cpfl3 double-knockout mice, which lack rod and cone α-transducin proteins, melanopsin-mediated phototransduction could still contribute to the primary pattern-forming visual pathway [5].

In conclusion, GNAT1 is essential for normal rod-mediated phototransduction. Studies using gene knockout mouse models have revealed its role in various retinal diseases such as CSNB, CORD, and retinitis pigmentosa. These models have provided insights into how GNAT1 mutations can disrupt normal visual function and associated biological processes in the retina.

References:

1. Hayashi, Takaaki, Hosono, Katsuhiro, Kurata, Kentaro, Nakano, Tadashi, Hotta, Yoshihiro. 2019. Coexistence of GNAT1 and ABCA4 variants associated with Nougaret-type congenital stationary night blindness and childhood-onset cone-rod dystrophy. In Documenta ophthalmologica. Advances in ophthalmology, 140, 147-157. doi:10.1007/s10633-019-09727-1. https://pubmed.ncbi.nlm.nih.gov/31583501/

2. Naeem, Muhammad Asif, Chavali, Venkata R M, Ali, Shahbaz, Hejtmancik, J Fielding, Riazuddin, S Amer. 2012. GNAT1 associated with autosomal recessive congenital stationary night blindness. In Investigative ophthalmology & visual science, 53, 1353-61. doi:10.1167/iovs.11-8026. https://pubmed.ncbi.nlm.nih.gov/22190596/

3. Carrigan, Matthew, Duignan, Emma, Humphries, Pete, Kenna, Paul F, Farrar, G Jane. 2015. A novel homozygous truncating GNAT1 mutation implicated in retinal degeneration. In The British journal of ophthalmology, 100, 495-500. doi:10.1136/bjophthalmol-2015-306939. https://pubmed.ncbi.nlm.nih.gov/26472407/

4. Biswas, Saptarshi, Shahriar, Sanjid, Bachay, Galina, Brunken, William J, Agalliu, Dritan. 2024. Glutamatergic neuronal activity regulates angiogenesis and blood-retinal barrier maturation via Norrin/β-catenin signaling. In Neuron, 112, 1978-1996.e6. doi:10.1016/j.neuron.2024.03.011. https://pubmed.ncbi.nlm.nih.gov/38599212/

5. Flood, Michael D, Veloz, Hannah L B, Hattar, Samer, Carvalho-de-Souza, Joao L. 2022. Robust visual cortex evoked potentials (VEP) in Gnat1 and Gnat2 knockout mice. In Frontiers in cellular neuroscience, 16, 1090037. doi:10.3389/fncel.2022.1090037. https://pubmed.ncbi.nlm.nih.gov/36605613/

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