C57BL/6JCya-Gabrqem1flox/Cya
Common Name:
Gabrq-flox
Product ID:
S-CKO-12274
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
Price:
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Basic Information
Strain Name
Gabrq-flox
Strain ID
CKOCMP-57249-Gabrq-B6J-VA
Gene Name
Product ID
S-CKO-12274
Gene Alias
--
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
X
Phenotype
Document
Application
--
Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Gabrqem1flox/Cya mice (Catalog S-CKO-12274) 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
Overview of Gene Research
GABRQ, encoding for the gamma-aminobutyric acid (GABA) A receptor subunit theta, is crucial as GABA is the main inhibitory neurotransmitter in the brain activating GABAA receptor, which consists of GABRA3, GABRB3, and GABRQ subunit isoforms [1]. Its function is likely associated with neurotransmission-related pathways, and genetic models could potentially shed light on its detailed role.
In clear cell renal cell carcinoma (ccRCC), low GABRQ mRNA expression was significantly associated with a poor prognosis, suggesting it could be a novel prognostic biomarker [1].
In frontotemporal dementia (FTD), the loss of GABRQ-expressing von Economo neurons (VENs) and pyramidal neurons was associated with TDP43 and FUS pathology, and correlated with the severity of early behavioural symptoms [2].
A missense coding variant rs3810651 in GABRQ was studied in Autism Spectrum Disorder (ASD), with female probands having higher severity in certain aspects in the presence of "A/AA" genotype [3]. Also, GABRQ rs3810651 may play a role in modifying the age at onset of migraine [4].
In conclusion, GABRQ is involved in multiple disease processes, with its expression or genetic variants showing associations with ccRCC prognosis, FTD behavioural symptoms, ASD severity, and migraine onset age. These findings from various studies contribute to understanding the role of GABRQ in different disease areas.
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/
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