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不同遗传背景的Tg-MYOCY437H小鼠未患青光眼。

Absence of Glaucoma in Tg-MYOCY437H Mice of Diverse Genetic Backgrounds.

作者信息

Tolman Nicholas G, Simón Marina, Juarez Felicia A, Zhang Chi, Hristova Zhivka I, Ouellette Tionna B, Sellarole Michael A, deVries Wilhelmine N, Montgomery Christa, John Simon W M

机构信息

Department of Ophthalmology, Vagelos College of Physicians and Surgeons, Columbia University Irving Medical Center, New York, New York, United States.

The Jackson Laboratory, Bar Harbor, Maine, United States.

出版信息

Invest Ophthalmol Vis Sci. 2025 Sep 2;66(12):40. doi: 10.1167/iovs.66.12.40.

Abstract

PURPOSE

Mutations in the myocilin (MYOC) gene cause elevated intraocular pressure and glaucoma. To better understand the factors influencing susceptibility to glaucoma, we studied the MYOC mutation (MYOCY437H).

METHODS

We characterized ocular phenotypes in Tg-MYOCY437H mice on nine different mouse strain backgrounds.

RESULTS

No glaucoma-related phenotypes were observed. We detected neither elevated intraocular pressure (daytime readings) nor optic nerve degeneration differences between wild type (WT) and Tg-MYOCY437H mice. This included an absence of Tg-MYOCY437H-induced phenotypes on a mixed B6SJL background that best reflected the original publications with this strain. We confirmed that this result was not due to an absence of transgene expression in ocular tissues.

CONCLUSIONS

Our data indicate undefined complexity and that the previously reported glaucoma phenotypes are not robust across all institutions and environments.

摘要

目的

肌纤蛋白(MYOC)基因突变会导致眼压升高和青光眼。为了更好地了解影响青光眼易感性的因素,我们研究了MYOC突变(MYOCY437H)。

方法

我们对九种不同小鼠品系背景下的Tg-MYOCY437H小鼠的眼部表型进行了特征描述。

结果

未观察到与青光眼相关的表型。我们在野生型(WT)和Tg-MYOCY437H小鼠之间未检测到眼压升高(日间读数)或视神经变性差异。这包括在混合B6SJL背景上未出现Tg-MYOCY437H诱导的表型,该背景最能反映该品系的原始文献。我们证实这一结果并非由于眼部组织中缺乏转基因表达。

结论

我们的数据表明存在未明确的复杂性,并且先前报道的青光眼表型在所有机构和环境中并不稳定。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/eae9/12449821/669a2da3c685/iovs-66-12-40-f001.jpg

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