{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"submitter":["Simikyan RG"],"funding":["NIDCD NIH HHS","NIDCD"],"pubmed_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 <i>Frem2-</i>deficient mouse models encoding missense variants found in patients, or a truncated FREM2 protein product were previously re"],"journal":["bioRxiv : the preprint server for biology"],"pagination":["2024.10.28.620501"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11565893"],"repository":["biostudies-literature"],"pubmed_title":["&lt;i&gt;Frem2&lt;/i&gt; Knockout Mice Exhibit Fraser Syndrome Phenotypes and Neonatal Lethality Due to Bilateral Renal Agenesis."],"pmcid":["PMC11565893"],"funding_grant_id":["R01 DC020190","R01 DC021795","R01DC021795","R01DC017166","R01 DC017166","R01DC020190"],"pubmed_authors":["Zhu M","Baranov PY","Zhang X","Simikyan RG","Richey L","Eckhard A","Strelkova O","Li N","Wu X","Indzhykulian AA"],"additional_accession":[]},"is_claimable":false,"name":"&lt;i&gt;Frem2&lt;/i&gt; Knockout Mice Exhibit Fraser Syndrome Phenotypes and Neonatal Lethality Due to Bilateral Renal Agenesis.","description":"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 <i>Frem2-</i>deficient mouse models encoding missense variants found in patients, or a truncated FREM2 protein product were previously re","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 Aug","modification":"2026-06-29T03:13:55.488Z","creation":"2026-06-29T03:09:05.638Z"},"accession":"S-EPMC11565893","cross_references":{"pubmed":["39554083"],"doi":["10.1101/2024.10.28.620501"]}}