C57BL/6JCya-Gria3em1flox/Cya
Common Name:
Gria3-flox
Product ID:
S-CKO-11633
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Gria3-flox
Strain ID
CKOCMP-53623-Gria3-B6J-VA
Gene Name
Product ID
S-CKO-11633
Gene Alias
2900064I19Rik; GluA3; GluR-C; GluR-K3; Glur-3; Glur3; Gluralpha3
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
X
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Gria3em1flox/Cya mice (Catalog S-CKO-11633) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000076349
NCBI RefSeq
NM_016886
Target Region
Exon 4
Size of Effective Region
~1.3 kb
Detailed Document
Overview of Gene Research
GRIA3, located on the X-chromosome, encodes the GluA3 subunit of the AMPA (α-amino-3-hydroxy-5-methyl-4-isoxazole propionic acid) receptor. AMPA receptors mediate fast excitatory neurotransmission in the brain, with GRIA3-encoded subunits contributing to the formation of these receptors, which are crucial for synaptic plasticity and normal brain function [1,2,3].
Functional studies on GRIA3 variants in patients with neurodevelopmental disorders (NDD) have revealed significant insights. Electrophysiological assays on 43 rare missense and one frameshift GRIA3 variants from NDD patients showed that 31 variants altered receptor function, presenting loss-of-function or gain-of-function properties [1]. Loss-of-function variants were associated with features like older age at seizure onset (median age: 16 months), hypotonia, and sleeping disturbances, while gain-of-function variants led to more severe outcomes such as younger age at seizure onset (median age: 1 month), hypertonia, and more frequent movement disorders [1]. Additionally, a missense variant c.2477G > A; p.(Gly826Asp) in affected male patients was found to decrease current response to agonists and reduce cell-surface expression, suggesting pathogenicity via a loss-of-function mechanism, and was associated with an exaggerated startle reflex, chorea, and multifocal myoclonus [4].
In conclusion, GRIA3 is essential for normal brain function through its role in AMPA receptor assembly. Research on GRIA3 variants in patients has highlighted its significance in neurodevelopmental disorders, with loss-of-function and gain-of-function variants leading to distinct phenotypes. Understanding these relationships can potentially contribute to better diagnosis and treatment strategies for related NDDs.
References:
1. Rinaldi, Berardo, Bayat, Allan, Zachariassen, Linda G, Shi, Yun Stone, Kristensen, Anders S. . Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes. In Brain : a journal of neurology, 147, 1837-1855. doi:10.1093/brain/awad403. https://pubmed.ncbi.nlm.nih.gov/38038360/
2. Okano, Satomi, Makita, Yoshio, Miyamoto, Akie, Yanagi, Kumiko, Kaname, Tadashi. 2023. GRIA3 p.Met661Thr variant in a female with developmental epileptic encephalopathy. In Human genome variation, 10, 4. doi:10.1038/s41439-023-00232-1. https://pubmed.ncbi.nlm.nih.gov/36726007/
3. Martinez-Esteve Melnikova, Anastasia, Pijuan, Jordi, Aparicio, Javier, Hoenicka, Janet, San Antonio-Arce, Victoria. 2022. The p.Glu787Lys variant in the GRIA3 gene causes developmental and epileptic encephalopathy mimicking structural epilepsy in a female patient. In European journal of medical genetics, 65, 104442. doi:10.1016/j.ejmg.2022.104442. https://pubmed.ncbi.nlm.nih.gov/35093607/
4. Piard, Juliette, Béreau, Matthieu, XiangWei, Wenshu, Maldergem, Lionel Van, Yuan, Hongjie. 2020. The GRIA3 c.2477G > A Variant Causes an Exaggerated Startle Reflex, Chorea, and Multifocal Myoclonus. In Movement disorders : official journal of the Movement Disorder Society, 35, 1224-1232. doi:10.1002/mds.28058. https://pubmed.ncbi.nlm.nih.gov/32369665/
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