biostudies-literatureZhang XNational Natural Science Foundation of China625492https://www.ebi.ac.uk/biostudies/studies/S-EPMC7820765biostudies-literatureUnknown8<h4>Background</h4>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 <i>Frem2</i> ^{<i>R725X/R2156W</i>} compound heterozygous mutations using CRISPR/Cas9 and showed that these mice recapitulated the human cryptophthalmos phenotype.<h4>Methods</h4>In this study, we tracked changes in the metabolic profile of embryos and expression of metabolism-related genes in <i>Frem2</i> mutant mice on E13.5 compared with wild-type mice. RNA sequencing (RNA-seq) was utilized to decipher the differentiated expression of genes Frontiers in cell and developmental biologyThe Metabolic Reprogramming of <i>Frem2</i> Mutant Mice Embryos in Cryptophthalmos Development.PMC78207658177096791546101Li WDongye MWang RLin DZhang XWang TWang DLin HWang JWu XfalseThe Metabolic Reprogramming of <i>Frem2</i> Mutant Mice Embryos in Cryptophthalmos Development.<h4>Background</h4>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 <i>Frem2</i> ^{<i>R725X/R2156W</i>} compound heterozygous mutations using CRISPR/Cas9 and showed that these mice recapitulated the human cryptophthalmos phenotype.<h4>Methods</h4>In this study, we tracked changes in the metabolic profile of embryos and expression of metabolism-related genes in <i>Frem2</i> mutant mice on E13.5 compared with wild-type mice. RNA sequencing (RNA-seq) was utilized to decipher the differentiated expression of genes 2020-01-01T00:00:00Z20202026-05-04T23:49:33.829Z2021-02-21T03:05:09ZS-EPMC78207653349008810.3389/fcell.2020.625492