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C57BL/6JCya-Gabrqem1/Cya
Common Name:
Gabrq-KO
Product ID:
S-KO-16616
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
Price:
Contact for Pricing
Basic Information
Strain Name
Gabrq-KO
Strain ID
KOCMP-57249-Gabrq-B6J-VB
Gene Name
Gabrq
Product ID
S-KO-16616
Gene Alias
--
Background
C57BL/6JCya
NCBI ID
57249
Modification
Conventional knockout
Chromosome
X
Phenotype
MGI:1888498
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-Gabrqem1/Cya mice (Catalog S-KO-16616) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000033711
NCBI RefSeq
NM_020488
Target Region
Exon 2
Size of Effective Region
~1.9 kb
Detailed Document
Click here to download >>
Overview of Gene Research
GABRQ, encoding the gamma-aminobutyric acid (GABA) A receptor subunit theta, is a crucial component of the GABAA receptor. GABA is the main inhibitory neurotransmitter in the brain, and the GABAA receptor, composed of subunits like GABRA3, GABRB3, and GABRQ, plays a key role in regulating neuronal excitability, thus being important for normal brain function and related biological processes [1].

GABRQ has been associated with multiple diseases. In clear cell renal cell carcinoma (ccRCC), low GABRQ mRNA expression was significantly linked to a poor prognosis, suggesting it could be a novel prognostic biomarker [1]. In hepatocellular carcinoma, GABRQ was overexpressed in cell lines and some tissues, and knockdown of endogenous GABRQ in HepG2 cells attenuated cell growth, indicating its role in promoting cancer cell viability [5]. In frontotemporal dementia (FTD), the loss of GABRQ-expressing von Economo neurons (VENs) and pyramidal neurons was associated with TDP43 and FUS pathology, and the severity of early behavioral symptoms correlated with a lower count of these neurons [2,6]. A missense coding variant rs3810651 in GABRQ was studied in Autism Spectrum Disorder (ASD), with a marginally higher frequency of "A" allele and "AA" genotype in female probands, who also showed higher severity in certain aspects [3]. Additionally, GABRQ rs3810651 might play a role in modifying the age at onset of migraine [4].

In conclusion, GABRQ is essential for the function of the GABAA receptor and neuronal excitability regulation. Its role in various diseases, such as ccRCC, hepatocellular carcinoma, FTD, ASD, and migraine, has been demonstrated through different studies. Understanding GABRQ could provide insights into the pathogenesis of these diseases and potentially lead to new diagnostic and therapeutic strategies.

References:

1. Lee, Dongjun, Ha, Mihyang, Hong, Chae Mi, Oh, Sae-Ock, Kim, Yun Hak. 2019. GABRQ expression is a potential prognostic marker for patients with clear cell renal cell carcinoma. In Oncology letters, 18, 5731-5738. doi:10.3892/ol.2019.10960. https://pubmed.ncbi.nlm.nih.gov/31788046/

2. Gami-Patel, Priya, Scarioni, Marta, Bouwman, Femke H, Hoozemans, Jeroen J M, Dijkstra, Anke A. 2022. The severity of behavioural symptoms in FTD is linked to the loss of GABRQ-expressing VENs and pyramidal neurons. In Neuropathology and applied neurobiology, 48, e12798. doi:10.1111/nan.12798. https://pubmed.ncbi.nlm.nih.gov/35152451/

3. Saha, Sharmistha, Chatterjee, Mahasweta, Sinha, Swagata, Mukhopadhyay, Kanchan. 2021. A pioneering study indicate role of GABRQ rs3810651 in ASD severity of Indo-Caucasoid female probands. In Scientific reports, 11, 7010. doi:10.1038/s41598-021-86496-5. https://pubmed.ncbi.nlm.nih.gov/33772085/

4. García-Martín, Elena, Esguevillas, Gara, Serrador, Mercedes, Agúndez, José A G, Jiménez-Jiménez, Félix Javier. 2018. Gamma-aminobutyric acid (GABA) receptors GABRA4, GABRE, and GABRQ gene polymorphisms and risk for migraine. In Journal of neural transmission (Vienna, Austria : 1996), 125, 689-698. doi:10.1007/s00702-017-1834-4. https://pubmed.ncbi.nlm.nih.gov/29299688/

5. Li, Yue-Hui, Liu, Yan, Li, Yan-Dong, Xie, Ping-Li, Li, Guan-Cheng. . GABA stimulates human hepatocellular carcinoma growth through overexpressed GABAA receptor theta subunit. In World journal of gastroenterology, 18, 2704-11. doi:10.3748/wjg.v18.i21.2704. https://pubmed.ncbi.nlm.nih.gov/22690081/

6. Gami-Patel, P, van Dijken, I, van Swieten, J C, Hoozemans, J J M, Dijkstra, A A. 2019. Von Economo neurons are part of a larger neuronal population that are selectively vulnerable in C9orf72 frontotemporal dementia. In Neuropathology and applied neurobiology, 45, 671-680. doi:10.1111/nan.12558. https://pubmed.ncbi.nlm.nih.gov/31066065/

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
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