C57BL/6JCya-Gnat1em1/Cya
Common Name:
Gnat1-KO
Product ID:
S-KO-20365
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Gnat1-KO
Strain ID
KOCMP-14685-Gnat1-B6J-VB
Gene Name
Product ID
S-KO-20365
Gene Alias
Gnat-1; Hg1f; Ird1; Ird2; Tralpha; irdc; irdr; transducin
Background
C57BL/6JCya
NCBI ID
Modification
Conventional knockout
Chromosome
9
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Gnat1em1/Cya mice (Catalog S-KO-20365) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000010205
NCBI RefSeq
NM_008140
Target Region
Exon 2~8
Size of Effective Region
~2.8 kb
Detailed Document
Overview of Gene Research
GNAT1, encoding the rod-specific transducin α -subunit, is a key element in the rod phototransduction cascade, playing a crucial role in vision [2,3]. It is involved in the process of converting light stimuli into neural signals in the retina, thus being of great biological importance for normal visual function. Genetic models, such as gene knockout mice, are valuable tools for studying its function.
In a consanguineous Pakistani family, a missense mutation in GNAT1 (p.D129G) was associated with autosomal recessive stationary night blindness, suggesting that loss-of-function of GNAT1 can lead to non-progressive retinal disorders affecting night vision [2]. In a Japanese family, a GNAT1 variant (p.G38D) was found in patients with Nougaret-type congenital stationary night blindness (CSNB), and co-existence of GNAT1 and biallelic ABCA4 variants was associated with an overlapping phenotype of CSNB and childhood-onset cone-rod dystrophy [1]. A novel homozygous truncating mutation in GNAT1 was reported in a patient with retinitis pigmentosa, indicating that some GNAT1 variants can cause a recessive, mild, late-onset retinal degeneration in addition to night-blindness [3]. In Gnat1-/-mice, constitutively depolarized rods release excessive glutamate, accelerating deep plexus angiogenesis and paracellular blood-retinal barrier maturation, demonstrating the role of GNAT1 in regulating glutamatergic neuronal activity-related angiogenesis and blood-retinal barrier maturation [4]. In Gnat1-/-; Gnat2cpfl3/cpfl3 mice, which lack rod and cone α-transducin proteins, robust light responses were still observed, suggesting that melanopsin-mediated phototransduction can contribute to the primary pattern-forming visual pathway even without functional rods and cones [5].
In conclusion, GNAT1 is essential for normal rod phototransduction and visual function. Gene knockout mouse models have revealed its role in various retinal diseases, including congenital stationary night blindness, cone-rod dystrophy, and retinitis pigmentosa. These studies help in understanding the mechanisms of retinal diseases related to GNAT1 and may provide potential directions for treatment.
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