Construction method, construction kit and application of optic atrophy animal model

Abstract

The invention discloses a construction method, a construction kit and an application of an optic atrophy animal model, and relates to the biotechnical field. The construction method is characterized in that a base at the 277th locus of an exon 2 of an animal OPA3 gene mutates from G to A to cause missense mutation, an amino acid residue mutating from G to S, of the 93rd position of an encoded OPA3protein, and an animal containing the mutation exhibits typical optic atrophy disease characteristics and can be used as the optic atrophy animal model. The animal model fills a gap in human autosomal dominant optic atrophy animal models, enriches the type of existing optic atrophy animal models, and facilitates the development of researches on ophthalmic diseases.

Description

technical field [0001] The invention relates to the field of biotechnology, in particular to a construction method, kit and application of an animal model of optic atrophy. Background technique [0002] The human OPA3 gene is located at 19q13.32, and the OPA3 protein encoded by it is one of the mitochondrial fusion proteins. This gene has multiple mutation sites, such as IVS1-1G-C, 18-BP DEL, and 313C-G(Q105E). The first two mutations lead to clinical disease type III 3-methylglutaconic aciduria, manifested as symptoms of central nervous system diseases such as rigidity, ataxia, and cognitive impairment, and are autosomal recessive genetic diseases; the third This mutation causes optic atrophy with or without cataracts and mild neurological symptoms, and is an autosomal dominant genetic disease. [0003] Although there are dozens of pathogenic genes that cause hereditary optic atrophy due to mutations, the existing animal models are only OPA1 (Q285STOP) mice and OPA3 (L122...

AI Technical Summary

Problems solved by technology

[0003] Although there are dozens of pathogenic genes that cause hereditary optic atrophy due to mutations, the existing animal models are only OPA1 (Q285STOP) mice and OPA3 (L122P) mice induced by ENU

Although phenotypically able to mimic the symptoms of hereditary optic atrophy, most of them are recessive genetic diseases, lacking animal models of dominantly inherited optic atrophy

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