C57BL/6JCya-Gabbr1em1flox/Cya
Common Name:
Gabbr1-flox
Product ID:
S-CKO-11747
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Gabbr1-flox
Strain ID
CKOCMP-54393-Gabbr1-B6J-VA
Gene Name
Product ID
S-CKO-11747
Gene Alias
GABAB1; GABAbR1; bM573K1.1
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
17
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Gabbr1em1flox/Cya mice (Catalog S-CKO-11747) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000025338
NCBI RefSeq
NM_019439
Target Region
Exon 12~13
Size of Effective Region
~1.7 kb
Detailed Document
Overview of Gene Research
Gabbr1, encoding the GABAB receptor subunit 1, is a key component of GABAB receptors. These receptors are obligatory heterodimers responsible for prolonged neuronal inhibition in the central nervous system [1]. Additionally, the hematopoietic and nervous systems are linked, and hematopoietic stem/progenitor cells (HSPCs) express Gabbr1, suggesting it may directly regulate HSPCs via neurotransmitters like GABA [2].
In a constitutive Gabbr1-knockout mouse model, HSPC numbers were significantly reduced in the bone marrow compared to wild-type littermates. Gabbr1-null hematopoietic stem cells had diminished capacity to reconstitute irradiated recipients in a competitive transplantation model. Gabbr1-null HSPCs were less proliferative under steady-state conditions and upon stress, and almost all were in a slow or non-cycling state. In vitro differentiation of Gabbr1-null HSPCs produced fewer overall cell numbers with significant defects in B-cell lineage differentiation and expansion [2]. Also, four individuals with monoallelic Gabbr1 de novo non-synonymous variants exhibited motor and/or language delay, and in one case, epilepsy. Functional characterization of these variants in transfected HEK293 cells showed that GABA fails to efficiently activate the variant receptors, likely increasing the excitation/inhibition balance in the central nervous system [1].
In conclusion, Gabbr1 plays essential roles in both the regulation of HSPC proliferation and function and in neuronal inhibition in the central nervous system. The Gabbr1-knockout mouse model has provided insights into its role in hematopoietic processes, while human genetic studies have revealed its potential association with neurodevelopmental delay and epilepsy. Understanding Gabbr1 is crucial for uncovering the mechanisms underlying these biological processes and associated diseases.
References:
1. Cediel, Maria Lucia, Stawarski, Michal, Blanc, Xavier, Bettler, Bernhard, Antonarakis, Stylianos E. 2022. GABBR1 monoallelic de novo variants linked to neurodevelopmental delay and epilepsy. In American journal of human genetics, 109, 1885-1893. doi:10.1016/j.ajhg.2022.08.010. https://pubmed.ncbi.nlm.nih.gov/36103875/
2. Shao, Lijian, Elujoba-Bridenstine, Adedamola, Zink, Katherine E, Pajcini, Kostandin V, Tamplin, Owen J. . The neurotransmitter receptor Gabbr1 regulates proliferation and function of hematopoietic stem and progenitor cells. In Blood, 137, 775-787. doi:10.1182/blood.2019004415. https://pubmed.ncbi.nlm.nih.gov/32881992/
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