C57BL/6JCya-Gabra1em1flox/Cya
Common Name:
Gabra1-flox
Product ID:
S-CKO-02530
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
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Basic Information
Strain Name
Gabra1-flox
Strain ID
CKOCMP-14394-Gabra1-B6J-VA
Gene Name
Product ID
S-CKO-02530
Gene Alias
GABAA-alpha1; GABAAR-alpha1; Gabra-1
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
11
Phenotype
Document
Application
--
Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Gabra1em1flox/Cya mice (Catalog S-CKO-02530) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000020707
NCBI RefSeq
NM_010250
Target Region
Exon 3
Size of Effective Region
~1.5 kb
Detailed Document
Overview of Gene Research
Gabra1, encoding the α1 subunit of heteropentameric gamma-aminobutyric acid A receptors (GABAARs), is crucial for primary inhibition in the brain [4]. GABAARs are involved in the pathogenesis of epilepsy, and Gabra1 is associated with a broad epilepsy spectrum, from genetic generalized epilepsies to developmental and epileptic encephalopathies [1,3]. It is also implicated in the control of intestinal fat absorption and in pathways related to influenza-induced sickness [2,5].
Variants in Gabra1 can lead to different phenotypes. Those in the extracellular domain and small transmembrane loops often show loss-of-function (LoF) effects, resulting in a milder phenotype with mild cognitive impairment and infantile onset epilepsy. In contrast, variants in the pore-forming transmembrane helices can have either gain-of-function (GoF) or LoF effects, with GoF variants associated with severe early onset neurodevelopmental disorders [1]. Conditional Gabra1 knockout in the dorsal motor nucleus of vagus (DMV) largely abolishes puerarin-induced intestinal fat loss, indicating its role in the DMV-vagus-jejunum axis controlling intestinal fat absorption [2].
In summary, Gabra1 is essential for brain inhibitory function and is involved in multiple biological processes. Studies, including those using knockout models, have revealed its significant role in epilepsy and intestinal fat absorption, enhancing our understanding of the related disease mechanisms and potentially guiding precision medicine approaches for Gabra1-related disorders [1,2].
References:
1. Musto, Elisa, Liao, Vivian W Y, Johannesen, Katrine M, Ahring, Philip K, Gardella, Elena. 2023. GABRA1-Related Disorders: From Genetic to Functional Pathways. In Annals of neurology, , . doi:10.1002/ana.26774. https://pubmed.ncbi.nlm.nih.gov/37606373/
2. Lyu, Qianqian, Xue, Wenzhi, Liu, Ruixin, Wang, Jiqiu, Wang, Weiqing. 2024. A brain-to-gut signal controls intestinal fat absorption. In Nature, 634, 936-943. doi:10.1038/s41586-024-07929-5. https://pubmed.ncbi.nlm.nih.gov/39261733/
3. Feng, Yan, Wei, Zi-Han, Liu, Chao, Zhang, Chu-Chu, Deng, Yan-Chun. 2022. Genetic variations in GABA metabolism and epilepsy. In Seizure, 101, 22-29. doi:10.1016/j.seizure.2022.07.007. https://pubmed.ncbi.nlm.nih.gov/35850019/
4. Arslan, Ayla. 2023. Pathogenic variants of human GABRA1 gene associated with epilepsy: A computational approach. In Heliyon, 9, e20218. doi:10.1016/j.heliyon.2023.e20218. https://pubmed.ncbi.nlm.nih.gov/37809401/
5. Bin, Na-Ryum, Prescott, Sara L, Horio, Nao, Chiu, Isaac M, Liberles, Stephen D. 2023. An airway-to-brain sensory pathway mediates influenza-induced sickness. In Nature, 615, 660-667. doi:10.1038/s41586-023-05796-0. https://pubmed.ncbi.nlm.nih.gov/36890237/
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