title: bfb, a novel ENU-induced blebs mutant resulting from a missense mutation in Fras1.
abstract: Fras1 is an extracellular matrix associated protein with essential roles in adhesion of epithelia and mesenchyme during early embryonic development. The adhesive function of Fras1 is achieved through interaction with a group of related proteins, Frem 1-3, and a cytoplasmic adaptor protein Grip1. Mutation of each of these proteins results in characteristic epithelial blistering and have therefore become known as "blebs" proteins. Human Fraser syndrome presents with a similar phenotype and the blebs mice have been instrumental in identification of the genetic basis of Fraser syndrome. We have identified a new ENU-induced blebs allele resulting from a novel missense mutation in Fras1. The resulting mouse strain, blood filled blisters (bfb), presents with a classic blebs phenotype but does not exhibit embryonic lethality typical of other blebs mutants and in addition, we report novel palate and sternal defects. Analysis of the bfb phenotype confirms the presence of epithelial-mesenchymal adhesion defects but also supports the emerging role of blebs proteins in regulating signalling during organogenesis. The bfb strain provides new opportunities to investigate the role of Fras1 in development.
authors.affiliation: Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia.
authors.forename: Kerry A
authors.initials: KA
authors.lastname: Miller
authors.forename: Christopher T
authors.initials: CT
authors.lastname: Gordon
authors.forename: Megan F
authors.initials: MF
authors.lastname: Welfare
authors.forename: Georgina
authors.initials: G
authors.lastname: Caruana
authors.forename: John F
authors.initials: JF
authors.lastname: Bertram
authors.forename: John F
authors.initials: JF
authors.lastname: Bateman
authors.forename: Peter G
authors.initials: PG
authors.lastname: Farlie
mesh_terms: D000483:Alleles; D000595:Amino Acid Sequence; D000818:Animals; D016326:Extracellular Matrix Proteins / Q000737:chemistry / Q000235:genetics*; D005260:Female; D006801:Humans; D051379:Mice; D008969:Molecular Sequence Data; D016296:Mutagenesis; D020125:Mutation, Missense; D038081:Organogenesis / Q000235:genetics; D010641:Phenotype
chemical_list: D016326:Extracellular Matrix Proteins; C482018:Fras1 protein, mouse