Nanophthalmos-Associated MYRF Gene Mutation Causes Ciliary Zonule Defects in Mice.

ABSTRACT:

Purpose

Patients with nanophthalmos who undergo intraocular surgery often present with abnormal ciliary zonules. In a previous study, we reported mutation in MYRF that is implicated in the pathogenesis of nanophthalmos. The aim of this study was to model the mutation in mice to explore the role of MYRF on zonule structure and its major molecular composition, including FBN1 and FBN2.

Methods

Human MYRF nanophthalmos frameshift mutation was generated in mouse using the CRISPR-Cas9 system. PCR and Sanger sequencing were used for genotype analysis of the mice model. Anterior chamber depth (ACD) was measured using hematoxylin and eosin-stained histology samples. Morphologic analysis of ciliary zonules was carried out using silver staining and immunofluorescence. Transcript and pr

SUBMITTER: Yu X 

PROVIDER: S-EPMC7937999 | biostudies-literature | 2021 Mar

REPOSITORIES: biostudies-literature