<i>Frem2</i> Knockout Mice Exhibit Fraser Syndrome Phenotypes and Neonatal Lethality Due to Bilateral Renal Agenesis.

ABSTRACT: Fraser syndrome is a rare autosomal recessive disorder characterized by multiple congenital malformations, including cryptophthalmos, syndactyly, and renal agenesis, which can lead to severe complications beginning at the embryonic stage. Mutations in genes encoding extracellular matrix proteins such as FRAS1, FREM1, FREM2, and the associated trafficking protein GRIP1, are implicated in Fraser syndrome. These proteins are critical for maintaining epithelial integrity during embryogenesis, with deficiencies leading to tissue detachment and blistering phenotypes in mouse models. The FREM2 protein is a single-pass membrane protein of 3169 amino acids. While Frem2-deficient mouse models encoding missense variants found in patients, or a truncated FREM2 protein product were previously re

SUBMITTER: Simikyan RG 

PROVIDER: S-EPMC11565893 | biostudies-literature | 2025 Aug

REPOSITORIES: biostudies-literature