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C57BL/6JCya-Gnaqem1flox/Cya
Common Name:
Gnaq-flox
Product ID:
S-CKO-02678
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
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Basic Information
Strain Name
Gnaq-flox
Strain ID
CKOCMP-14682-Gnaq-B6J-VA
Gene Name
Gnaq
Product ID
S-CKO-02678
Gene Alias
1110005L02Rik; 6230401I02Rik; Dsk1; Dsk10; Galphaq; Gq; GqI
Background
C57BL/6JCya
NCBI ID
14682
Modification
Conditional knockout
Chromosome
19
Phenotype
MGI:95776
Document
Click here to download >>
Application
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More
Rare Disease Data Center >>
Note
Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Gnaqem1flox/Cya mice (Catalog S-CKO-02678) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000025541
NCBI RefSeq
NM_008139
Target Region
Exon 3
Size of Effective Region
~2.1 kb
Detailed Document
Click here to download >>
Overview of Gene Research
Gnaq, short for guanine nucleotide binding protein G(q) subunit alpha, encodes the alpha subunit of the heterotrimeric G protein Gq. It functions in signal transduction through G-protein coupled receptors, activating downstream pathways such as phospholipase C, and is crucial for various physiological homeostasis processes [3,4].

Mutations in Gnaq are associated with multiple diseases. In over 90% of uveal melanoma patients, Gnaq/Gna11 mutations lead to signal transduction to downstream growth factors [1]. In zebrafish models, patient-derived Gnaq (GnaqQ209L) mutations combined with tp53M214K/M214K drive uveal melanoma, showing that YAP signaling is a major mediator of uveal melanoma and MITF acts as a tumor suppressor in this context [6]. Somatic, mosaic Gnaq mutations cause port-wine birthmarks, characterized by dilated, dysfunctional blood vessels, and when involving eyes and/or brain, result in Sturge-Weber syndrome [2]. Also, Gnaq mutations are present in capillary malformations, the most common vascular malformation [5].

In conclusion, Gnaq is essential for normal signal transduction via G-protein coupled receptors. Studies using genetic models like zebrafish have revealed its role in the development of uveal melanoma. Its mutations are strongly associated with various vascular and pigmentary diseases, highlighting the importance of understanding Gnaq's function for developing targeted therapies for these conditions.

References:
1. Lietman, Caressa D, McKean, Meredith. 2022. Targeting GNAQ/11 through PKC inhibition in uveal melanoma. In Cancer gene therapy, 29, 1809-1813. doi:10.1038/s41417-022-00437-6. https://pubmed.ncbi.nlm.nih.gov/35181742/
2. Van Trigt, William K, Kelly, Kristen M, Hughes, Christopher C W. 2022. GNAQ mutations drive port wine birthmark-associated Sturge-Weber syndrome: A review of pathobiology, therapies, and current models. In Frontiers in human neuroscience, 16, 1006027. doi:10.3389/fnhum.2022.1006027. https://pubmed.ncbi.nlm.nih.gov/36405075/
3. Silva-Rodríguez, Paula, Fernández-Díaz, Daniel, Bande, Manuel, Loidi, Lourdes, Blanco-Teijeiro, María José. 2022. GNAQ and GNA11 Genes: A Comprehensive Review on Oncogenesis, Prognosis and Therapeutic Opportunities in Uveal Melanoma. In Cancers, 14, . doi:10.3390/cancers14133066. https://pubmed.ncbi.nlm.nih.gov/35804836/
4. Shoushtari, Alexander N, Carvajal, Richard D. . GNAQ and GNA11 mutations in uveal melanoma. In Melanoma research, 24, 525-34. doi:10.1097/CMR.0000000000000121. https://pubmed.ncbi.nlm.nih.gov/25304237/
5. Bichsel, Colette, Bischoff, Joyce. . A somatic missense mutation in GNAQ causes capillary malformation. In Current opinion in hematology, 26, 179-184. doi:10.1097/MOH.0000000000000500. https://pubmed.ncbi.nlm.nih.gov/30870248/
6. Phelps, Grace B, Hagen, Hannah R, Amsterdam, Adam, Lees, Jacqueline A. 2022. MITF deficiency accelerates GNAQ-driven uveal melanoma. In Proceedings of the National Academy of Sciences of the United States of America, 119, e2107006119. doi:10.1073/pnas.2107006119. https://pubmed.ncbi.nlm.nih.gov/35512098/
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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