Human-derived retinoschisis transgenic mice model and construction method thereof

Abstract

The invention provides a method for constructing a human-derived retinoschisis transgenic mice model. The method comprises the following steps: taking human-derived RS1 genes as basis, screening human pathogenic genes to be knocked in mice through gene editing means, thereby obtaining RS1h-KI mouse disease model.

Description

technical field [0001] The invention relates to a human-derived retinoschisis transgenic mouse model and a construction method thereof. Background technique [0002] Hereditary retinoschisis is an X-chromosomal genetic disease, so it is also called X-linked retinoschisis (XLRS). The disease occurs in whites, blacks and yellow races, with an incidence rate of 1:5000-1:25000. XLRS mainly occurs in males, and it is rare in females. It is more common in children and young adults. It is one of the main genetic diseases that cause blindness in adolescents. The clinical symptoms of XLRS are mostly macular retinoschisis, strabismus, nystagmus, poor vision or even total blindness, ERG is abnormal, b-wave amplitude is significantly reduced, and OCT scan shows obvious "warriform" cyst splitting, severe manifestations Thinning for the thickness of each layer of the retina and the total thickness. To date, there is no effective treatment for hereditary retinoschisis. [0003] RS1 Th...

AI Technical Summary

Problems solved by technology

There are no reports on human-derived mouse models at home and abroad, and human-derived mutations RS1 It has not been reported whether the XLRS disease model formed by gene transfer mice has similar or identical characteristics to clinical patients

Images