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Article

Generation of mice with a conditional null Fraser syndrome 1 (Fras1) allele.

Genesis (New York, N.Y. : 2000) - 1 Dec 2012

Pitera Jolanta E, Turmaine Mark, Woolf Adrian S, Scambler Peter J

Abstract excerpt

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 FRAS1 homozygous mutations occur in some FS individuals. FRAS1 is expressed at the epithelial-mesenchymal interface in embryonic skin and kidney. blebbed mice have a null Fras1 mutation and phenocopy human FS. Like humans...

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Source

Identifiers

PMID: 22730198
DOI: 10.1002/dvg.22045

Genes

FRAS1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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