C57BL/6JCya-Arhgef6em1flox/Cya
Common Name:
Arhgef6-flox
Product ID:
S-CKO-15675
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Arhgef6-flox
Strain ID
CKOCMP-73341-Arhgef6-B6J-VA
Gene Name
Product ID
S-CKO-15675
Gene Alias
1600028C08Rik; 1700038J06Rik; 4930592P22Rik; alpha-PIX
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-Arhgef6em1flox/Cya mice (Catalog S-CKO-15675) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000033468
NCBI RefSeq
NM_152801
Target Region
Exon 10
Size of Effective Region
~1.6 kb
Detailed Document
Overview of Gene Research
ARHGEF6, also known as alpha-PIX or Cool-2, is a guanine nucleotide exchange factor belonging to the Dbl-related guanylate exchanger (GEF) family. It specifically activates Rho GTPases CDC42 and RAC1, playing a key role in biological processes such as cell migration, focal adhesion, and cytoskeletal rearrangement. It acts downstream of integrin-linked kinase (ILK) and parvin proteins, suggesting its involvement in integrin-mediated signaling pathways [1,3].
In genetic studies, Arhgef6-deficient mouse models recapitulated features of human congenital anomalies of the kidneys and urinary tract (CAKUT), indicating that deleterious variants in ARHGEF6 may cause dysregulation of integrin-parvin-RAC1/CDC42 signaling, leading to X-linked CAKUT [1]. In another study, knockdown of Arhgef6 in mice caused hair cell stereocilia deficits, progressive hair cell loss, and hearing loss, with the levels of active CDC42 and RAC1 dramatically decreased, suggesting that ARHGEF6 regulates stereocilia maintenance through RAC1/CDC42 [2].
In conclusion, ARHGEF6 is crucial for regulating cell-related processes such as migration, adhesion, and cytoskeletal rearrangement through activating CDC42 and RAC1. Studies using Arhgef6-deficient mouse models have revealed its role in diseases like CAKUT and hearing loss, enhancing our understanding of the molecular mechanisms underlying these conditions and potentially providing new insights for diagnosis and treatment.
References:
1. Klämbt, Verena, Buerger, Florian, Wang, Chunyan, Zegers, Mirjam M P, Hildebrandt, Friedhelm. 2023. Genetic Variants in ARHGEF6 Cause Congenital Anomalies of the Kidneys and Urinary Tract in Humans, Mice, and Frogs. In Journal of the American Society of Nephrology : JASN, 34, 273-290. doi:10.1681/ASN.2022010050. https://pubmed.ncbi.nlm.nih.gov/36414417/
2. Zhu, Chengwen, Cheng, Cheng, Wang, Yanfei, Xu, Zhigang, Chai, Renjie. 2018. Loss of ARHGEF6 Causes Hair Cell Stereocilia Deficits and Hearing Loss in Mice. In Frontiers in molecular neuroscience, 11, 362. doi:10.3389/fnmol.2018.00362. https://pubmed.ncbi.nlm.nih.gov/30333726/
3. Rosenberger, Georg, Jantke, Inka, Gal, Andreas, Kutsche, Kerstin. . Interaction of alphaPIX (ARHGEF6) with beta-parvin (PARVB) suggests an involvement of alphaPIX in integrin-mediated signaling. In Human molecular genetics, 12, 155-67. doi:. https://pubmed.ncbi.nlm.nih.gov/12499396/
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