B6-huGUCY2D Mouse
Product Name
B6-huGUCY2D Mouse
Product ID
C001798
Strain Name
C57BL/6JCya-Gucy2eem2(hGUCY2D)/Cya
Backgroud
C57BL/6JCya
Status
When using this mouse strain in a publication, please cite “B6-huGUCY2D Mouse (Catalog C001798) were purchased from Cyagen.”
Product Type
Age
Genotype
Sex
Quantity
Gene Name
Gene Alias
LCA, CACD, CG-E, CYGD, LCA1, RCD2, CACD1, CORD5, CORD6, GUC2D, ROSGC, retGC, CSNB1I, GUC1A4, RETGC-1, ROS-GC1
NCBI ID
Chromosome
Chr 17
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]. Gene therapy offers a new treatment strategy for LCA1 patients. By delivering the GUCY2D gene or its normal copy into retinal photoreceptor cells via adeno-associated virus (AAV) vectors, it is possible to restore the function of rod and cone cells and improve visual behavior. In addition to gene therapy, researchers have explored other therapeutic approaches. For example, using double-stranded RNA interference (RNAi) technology can reduce the expression of the GUCY2D gene, thereby slowing the progression of retinal degeneration [1-2]. Apart from LCA1, the GUCY2D gene is also associated with other retinal diseases; recessive mutations in the GUCY2D gene cause cone-rod dystrophy (CORD). 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].
The B6-huGUCY2D mouse is a humanized model constructed through gene-editing technology, in which the sequences from p.A55 to 3'UTR of the endogenous mouse Gucy2e gene are replaced with the sequences from p.A52 to 3'UTR of the human GUCY2D gene. The murine signal peptide is remained. This model can be used for research on diseases such as Leber congenital amaurosis type 1 (LCA1), cone-rod dystrophy (CORD), and retinitis pigmentosa (RP), as well as for screening, development, and preclinical evaluation of GUCY2D-targeted therapeutics.
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.
Strain Strategy
The sequences from p.A55 to 3'UTR of the endogenous mouse Gucy2e gene were replaced with the sequences from p.A52 to 3'UTR of the human GUCY2D gene. The murine signal peptide was remained.
Figure 1. Gene editing strategy of B6-huGUCY2D mice.
Application Area
Screening, development, and pre-clinical evaluation of GUCY2D-targeted drugs;
Research on Leber congenital amaurosis (LCA);
Research on cone-rod dystrophy (CORD).
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