{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,12]],"date-time":"2025-10-12T19:49:09Z","timestamp":1760298549376},"reference-count":31,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2012,7,23]],"date-time":"2012-07-23T00:00:00Z","timestamp":1343001600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genesis"],"published-print":{"date-parts":[[2012,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Summary: Fraser syndrome (FS) is an autosomal recessive disease characterized by skin lesions and kidney and upper airway malformations. Fraser syndrome 1 (FRAS1) is an extracellular matrix protein, and <jats:italic>FRAS1<\/jats:italic> homozygous mutations occur in some FS individuals. FRAS1is expressed at the epithelial\u2010mesenchymal interface in embryonic skin and kidney. <jats:italic>blebbed<\/jats:italic> mice have a null <jats:italic>Fras1<\/jats:italic> mutation and phenocopy human FS. Like humans with FS, they exhibit a high fetal and neonatal mortality, precluding studies of FRAS1 functions in later life. We generated conditional <jats:italic>Fras1<\/jats:italic> null allele mice. Cre\u2010mediated generalized deletion of this allele generated embryonic skin blisters and renal agenesis characteristic of <jats:italic>blebbed<\/jats:italic> mice and human FS. Targeted deletion of <jats:italic>Fras1<\/jats:italic> in kidney podocytes circumvented skin blistering, renal agenesis, and early death. FRAS1 expression was downregulated in maturing glomeruli which then became sclerotic. The data are consistent with the hypothesis that locally produced FRAS1 has roles in glomerular maturation and integrity. This conditional allele will facilitate study of possible role for FRAS1 in other tissues such as the skin. genesis 50:892\u2013898, 2012. \u00a9 2012 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/dvg.22045","type":"journal-article","created":{"date-parts":[[2012,6,22]],"date-time":"2012-06-22T19:59:02Z","timestamp":1340395142000},"page":"892-898","source":"Crossref","is-referenced-by-count":5,"title":["Generation of mice with a conditional null <i>fraser syndrome 1<\/i> (<i>Fras1<\/i>) allele"],"prefix":"10.1002","volume":"50","author":[{"given":"Jolanta E.","family":"Pitera","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mark","family":"Turmaine","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Adrian S.","family":"Woolf","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter 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