扬州大学学报（农业与生命科学版）2025，Vol.46Issue(2)：9-15,7.DOI:10.16872/j.cnki.1671-4652.2025.02.002
ENU诱变建立RAX基因无义突变眼畸形小鼠模型
Generation of an ENU-induced eye dysmorphology mouse model of nonsense mutation of RAX gene
摘要
Abstract
The aim of this study was to create N-ethyl-N-nitrosourea(ENU)-induced inherited eye dysmorphology mouse model,and to conduct pathological analysis of corneal sections for corneal disease mouse,map and sequence analysis of the patho-genic gene.The results showed that in the corneal matrix layer,although the corneal stromal layer had no blood vessels,its fiber arrangement were looser,along with the partial absence of endothelial cells.And the local corneal epithelial cells of mice with corneal opacity showed a significant downregulation of Keratin 12(K12)signal,while the Keratin 14(K14)was ex-pressed most prominently in the corneal epithelium and was weak in the wild-type corneal epithelium.These results showed abnormal corneal epithelium differentiation in mutant corneas.The mutation was mapped to mouse chromosome 18 near maker D18Mit184.The retina and anterior neural fold homeobox(RAX)was finally selected as a candidate gene for this mutation.On examination of the RAX gene,we found a C/T substitution,in nucleotide position 557 of the RAX-coding region that resulted in substitution of an arginine codon(R)by a stop(nonsense)codon at position 187,then prematurely terminated the RAX protein synthesis.This study suggests that the induced RAX gene mutation is expected to establish a new mouse model of eye malformation.关键词
小鼠/乙烷基亚硝基脲/眼畸形/视网膜和前神经折叠同源框基因Key words
mouse/N-ethyl-N-nitrosourea(ENU)/eye dysmorphology/retina and anterior neural fold homeobox gene分类
临床医学引用本文复制引用
释晓纯,耿滕,欧阳慧玲,王烁,陈莉,陈兵..ENU诱变建立RAX基因无义突变眼畸形小鼠模型[J].扬州大学学报（农业与生命科学版）,2025,46(2):9-15,7.基金项目
国家自然科学基金资助项目(31372269、31000987) （31372269、31000987）
江苏省研究生科研创新计划项目(KYCX23_3607) （KYCX23_3607）
江苏省实验动物协会2023年研究课题(DWXH202304) （DWXH202304）
江苏高校优势学科建设工程项目(PAPD) （PAPD）
