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Heterogeneity in the progression of retinal pathologies in mice harboring patient mimicking Impg2 mutations

Hum Mol Genet. 2023-11; 
Brittany N Williams, Adam Draper, Patrick F Lang, Tylor R Lewis, Audrey L Smith, Steven J Mayerl, Marie Rougié, Jeremy M Simon, Vadim Y Arshavsky, Scott H Greenwald, David M Gamm, Isabel Pinilla, Benjamin D Philpot
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Proteins, Expression, Isolation and Analysis … No evidence of an IC-IMPG2 gradient at the inner segment was apparent by confocal … custom antibodies to mouse IMPG2 in collaboration with GenScript (Piscataway, NJ, USA): N-… Get A Quote

摘要

Biallelic mutations in interphotoreceptor matrix proteoglycan 2 (IMPG2) in humans cause retinitis pigmentosa (RP) with early macular involvement, albeit the disease progression varies widely due to genetic heterogeneity and IMPG2 mutation type. There are currently no treatments for IMPG2-RP. To aid preclinical studies toward eventual treatments, there is a need to better understand the progression of disease pathology in appropriate animal models. Towards this goal, we developed mouse models with patient mimicking homozygous frameshift (T807Ter) or missense (Y250C) Impg2 mutations, as well as mice with homozygous frameshift mutations (Q244Ter) designed to completely prevent IMPG2 protein expression, and charact... More

關鍵詞

IMPG2, cone-rod dystrophy, inherited retinal disorder, interphotoreceptor matrix, retinitis pigmentosa
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