Disease gene animal model of primary open angle glaucoma and construction method thereof

Abstract

The invention discloses a disease gene animal model of primary open angle glaucoma and a construction method thereof. The method comprises the following steps: (1) cloning human an OPTN (optineurin, E50K) mutant gene to an expression vector with a retinal specific promoter c-kit to construct a recombinant mammal expression vector; and (2) introducing the recombinant mammal expression vector into the bodies of mice and screening and identifying to obtain transgenic mice. In consideration of the difference between the mouse OPTN (E50K) and the human gene, the human OPTN (E50K) is introduced into the retinal specific promoter so that the human OPTN (E50K) gene is specifically expressed in the retina of the mouse. The model of primary open angle glaucoma due to the mutation of OPTN (E50K) is constructed, and the laboratory animals are provided for the systemic researches on pathogenic mechanism, development trend and disease prognosis and treatment of primary open angle glaucoma (POAG) due to the mutation of OPTN (E50K) in human beings.

Description

technical field [0001] The present invention relates to an animal model expressing disease-causing genes, in particular to a primary open-angle glaucoma animal model specifically expressing human mutant OPTN (E50K) gene in mouse retina and its construction method, belonging to the category of animal models Build fields. Background technique [0002] OPTN gene is one of the pathogenic genes of primary open angle glaucoma (POAG). The E50K mutation of OPTN gene can lead to the apoptosis of retinal ganglion cells (RGCs), but the mechanism is unclear [0003] Chi ZL etc. (Overexpression of optineurin E50K disrupts Rab8interaction and leads to a progressive retinal degeneration in mice. Chi ZL, Akahori M, Obazawa M, et al. Hum Mol Genet.2010; 19 (13): 2606-15) disclosed a An animal model of primary open-angle glaucoma, the mutant gene of the OPTN (E50K) mouse transgenic gene model used in it is all mouse-derived, because the OPTN gene of the mouse is not exactly the same as the O...

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Problems solved by technology

Further studies on OPTN-TGF-β1 double transgenic mice found that OPTN protein could not resist TGF-β1-induced crystal epithelial apoptosis, indicating that OPTN protein may not be involved in the TGF-β1 gene regulation pathway, but the focus of this study is not glaucoma, and The OPTN(E50K) mutation model has not been produced and studied

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