Gucy2e&Gucy2f dKO Mouse
Product Name
Gucy2e&Gucy2f dKO Mouse
Product ID
C001928
Strain Name
C57BL/6JCya-Gucy2eem1Gucy2fem1/Cya
Backgroud
C57BL/6JCya
Status
When using this mouse strain in a publication, please cite “Gucy2e&Gucy2f dKO Mouse (Catalog C001928) were purchased from Cyagen.”
Product Type
Age
Genotype
Sex
Quantity
Gene Alias
GC1, GC-E, ROS-GC1, GC2, GC-F, A930002I06
Chromosome
Chr 11, Chr X
MGI ID
Datasheet
Strain Description
Gucy2e, which is the gene encoding mouse retinal guanylate cyclase 1 (RetGC1), is a key enzyme in the retina responsible for synthesizing the second messenger cyclic guanosine monophosphate (cGMP). cGMP plays an important role in the process of retinal phototransduction. Especially when restoring the dark state, it regulates the opening and closing of cGMP-gated calcium-sodium channels (CNG) and controls the influx of calcium ions (Ca2+). Mutations in Gucy2e can lead to the loss of function of retinal guanylate cyclase 1, thereby affecting the normal function of retinal photoreceptor cells [1]. Studies have shown that mutations in the Gucy2e gene are one of the main causes of Leber congenital amaurosis type 1 (LCA1). In humans, the GUCY2D gene encodes RetGC1, and its mutations lead to the occurrence of LCA1 [2]. Apart from LCA1, the Gucy2e gene is also associated with other retinal diseases. For example, in a mouse model of retinitis pigmentosa (RP), knocking down the expression of the Gucy2e gene can increase the survival rate of photoreceptors and slow down the process of retinal degeneration [3]. By studying the transport mechanism of membrane proteins in the retinal photoreceptor cells of Gucy2e knockout mice, the specific pathways of membrane protein transport in retinal photoreceptor cells can be revealed [4]. In addition, the methylation status of the Gucy2e gene may be related to lipid levels, which indicates that the Gucy2e gene may be involved in the regulation of nervous system and retinal functions [5].
Gucy2f, also known as retinal guanylate cyclase 2F, is a gene that encodes retinal guanylate cyclase-2 (RetGC2). The expression of Gucy2f is mainly restricted to retinal photoreceptor cells, including rod cells and cone cells, as well as retinal pigment epithelial cells. Mutations in Gucy2f can lead to abnormal function of RetGC2, which in turn affects the synthesis of cGMP and the retinal phototransduction process, ultimately resulting in the onset of retinal diseases, including Leber congenital amaurosis (LCA) and cone-rod dystrophy (CORD) [6-7].
Gucy2e&Gucy2f dKO mice are a double-gene knockout model obtained by mating Gucy2f KO mice (catalog number: C001887) with Gucy2e KO mice (catalog number: C001927). Gucy2e&Gucy2f dKO mice can be used for studying the pathogenic mechanisms of retinal diseases such as Leber congenital amaurosis (LCA) and cone-rod dystrophy (CORD) and for developing relevant treatment methods.
Reference
Naggert ASEN, Collin GB, Wang J, Krebs MP, Chang B. A mouse model of cone photoreceptor function loss (cpfl9) with degeneration due to a mutation in Gucy2e. Front Mol Neurosci. 2023 Jan 9;15:1080136.
Boye SL, Peterson JJ, Choudhury S, Min SH, Ruan Q, McCullough KT, Zhang Z, Olshevskaya EV, Peshenko IV, Hauswirth WW, Ding XQ, Dizhoor AM, Boye SE. Gene Therapy Fully Restores Vision to the All-Cone Nrl(-/-) Gucy2e(-/-) Mouse Model of Leber Congenital Amaurosis-1. Hum Gene Ther. 2015 Sep;26(9):575-92.
Tosi J, Davis RJ, Wang NK, Naumann M, Lin CS, Tsang SH. shRNA knockdown of guanylate cyclase 2e or cyclic nucleotide gated channel alpha 1 increases photoreceptor survival in a cGMP phosphodiesterase mouse model of retinitis pigmentosa. J Cell Mol Med. 2011 Aug;15(8):1778-87.
Karan S, Zhang H, Li S, Frederick JM, Baehr W. A model for transport of membrane-associated phototransduction polypeptides in rod and cone photoreceptor inner segments. Vision Res. 2008 Feb;48(3):442-52.
Sun R, Weng H, Men R, Xia X, Chong KC, Wu WKK, Zee BC, Wang MH. Gene-methylation epistatic analyses via the W-test identifies enriched signals of neuronal genes in patients undergoing lipid-control treatment. BMC Proc. 2018 Sep 17;12(Suppl 9):53.
Mellen RW, Calabro KR, McCullough KT, Crosson SM, Cova A, Fajardo D, Xu E, Boye SL, Boye SE. Development of an AAV-CRISPR-Cas9-based treatment for dominant cone-rod dystrophy 6. Mol Ther Methods Clin Dev. 2023 Jun 1;30:48-64.
Stiebel-Kalish H, Reich E, Rainy N, Vatine G, Nisgav Y, Tovar A, Gothilf Y, Bach M. Gucy2f zebrafish knockdown--a model for Gucy2d-related leber congenital amaurosis. Eur J Hum Genet. 2012 Aug;20(8):884-9.
Strain Strategy
Figure 1. Gene editing strategy for Gucy2e KO mice. The mouse Gucy2e gene contains 19 exons. The ATG start codon is located in exon 2, and the TGA stop codon is located in exon 19. In this strain, the regions of exons 4-11 were knocked out using gene-editing technology.
Figure 2. Gene editing strategy for Gucy2f KO mice. The mouse Gucy2f gene contains 20 exons. The ATG start codon is located in exon 2, and the TAA stop codon is located in exon 19. In this strain, the region of exon 3 was knocked out using gene editing technology.
Application Area
Research on Leber congenital amaurosis (LCA);
Research on cone-rod dystrophy (CORD).
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