Open AccessOcular Manifestations of Chordin-like 1 Knockout Mice
Author(s) -
Di Chen,
Yang Liu,
Guanhua Shu,
Chinfei Chen,
David A. Sullivan,
Wendy R. Kam,
Steven Hann,
Megan E. Fowler,
Matthew L. Warman
Publication year - 2020
Publication title -
cornea
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.274
H-Index - 117
eISSN - 1536-4798
pISSN - 0277-3740
DOI - 10.1097/ico.0000000000002371
Subject(s) - knockout mouse , cornea , retinal , biology , ophthalmology , endocrinology , anatomy , medicine , gene , genetics
In humans, loss-of-function mutations in the gene encoding Chordin-like 1 (CHRDL1) cause X-linked megalocornea (MGC1), characterized by bilateral corneal enlargement, decreased corneal thickness, and increased anterior chamber depth (ACD). We sought to determine whether Chrdl1 knockout (KO) mice would recapitulate the ocular findings found in patients with MGC1.