Mouse models of human ocular disease for translational research

被引：32

作者：

Krebs, Mark P. ^{[1
]}

Collin, Gayle B. ^{[1
]}

Hicks, Wanda L. ^{[1
]}

Yu, Minzhong ^{[2
,3
]}

Charette, Jeremy R. ^{[1
]}

Shi, Lan Ying ^{[1
]}

Wang, Jieping ^{[1
]}

Naggert, Juergen K. ^{[1
]}

Peachey, Neal S. ^{[2
,3
,4
]}

Nishina, Patsy M. ^{[1
]}

机构：

[1] Jackson Lab, 600 Main St, Bar Harbor, ME 04609 USA

[2] Cleveland Clin Fdn, Cole Eye Inst, Dept Ophthalm Res, 9500 Euclid Ave, Cleveland, OH 44195 USA

[3] Case Western Reserve Univ, Lerner Coll Med, Cleveland Clin, Dept Ophthalmol, Cleveland, OH 44106 USA

[4] Louis Stokes Cleveland VA Med Ctr, Res Serv, Cleveland, OH USA

来源：

PLOS ONE | 2017年 / 12卷 / 08期

基金：

美国国家卫生研究院;

关键词：

FUKUTIN-RELATED PROTEIN; DOMINANT RETINITIS-PIGMENTOSA; LEBER CONGENITAL AMAUROSIS; DYSTROPHIN-ASSOCIATED GLYCOPROTEIN; PHOTORECEPTOR DEGENERATION; RETINAL DEGENERATION; RHODOPSIN MUTATIONS; RIBITOL-PHOSPHATE; CRYSTAL-STRUCTURE; VISUAL FUNCTION;

D O I：

10.1371/journal.pone.0183837

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

Mouse models provide a valuable tool for exploring pathogenic mechanisms underlying inherited human disease. Here, we describe seven mouse models identified through the Translational Vision Research Models (TVRM) program, each carrying a new allele of a gene previously linked to retinal developmental and/or degenerative disease. The mutations include four alleles of three genes linked to human nonsyndromic ocular diseases (Aipl1(tvrm119), Aipl1(tvrm127), Rpgrip1(tvrm111,) Rho(Tvrm334)) and three alleles of genes associated with human syndromic diseases that exhibit ocular phentoypes (Alms1(tvrm102), Clcn2 (nmf289), Fkrp(tvrm53)). Phenotypic characterization of each model is provided in the context of existing literature, in some cases refining our current understanding of specific disease attributes. These murine models, on fixed genetic backgrounds, are available for distribution upon request and may be useful for understanding the function of the gene in the retina, the pathological mechanisms induced by its disruption, and for testing experimental approaches to treat the corresponding human ocular diseases.

引用

页数：33

共 142 条

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