The Metabolic Reprogramming of Frem2 Mutant Mice Embryos in Cryptophthalmos Development.

ABSTRACT:

Background

Cryptophthalmos is characterized by congenital ocular dysplasia with eyelid malformation. The pathogenicity of mutations in genes encoding components of the FRAS1/FREM protein complex is well established, but the underlying pathomechanisms of this disease are still unclear. In the previous study, we generated mice carrying Frem2 ^R725X/R2156W compound heterozygous mutations using CRISPR/Cas9 and showed that these mice recapitulated the human cryptophthalmos phenotype.

Methods

In this study, we tracked changes in the metabolic profile of embryos and expression of metabolism-related genes in Frem2 mutant mice on E13.5 compared with wild-type mice. RNA sequencing (RNA-seq) was utilized to decipher the differentiated expression of genes

SUBMITTER: Zhang X 

PROVIDER: S-EPMC7820765 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature