title: Generation of mice with a conditional and reporter allele for Tmem100.
abstract: Activin receptor-like kinase 1 (ACVRL1; ALK1) is predominantly expressed in arterial endothelial cells and plays an important role in angiogenesis. ACVRL1 mutations cause hereditary hemorrhagic telangiectasia (HHT), a genetic vascular disorder for which the underlying mechanism is poorly understood. We have found that expression of transmembrane protein 100 (Tmem100) is downregulated in the lung of Acvrl1-deficient mice; however, its function is unknown. To elucidate the role of Tmem100 in vivo, we generated a conditional knockout allele for Tmem100 in which exon3, containing the entire coding sequence, was flanked by loxP sequences. The targeted allele also possessed a lacZ reporter cassette in intron2 for visualization of Tmem100 expression. We found that Tmem100 was predominantly expressed in arterial endothelial cells of developing embryos. The conditional and reporter allele will be a useful resource to investigate the in vivo role of Tmem100, especially in angiogenesis.
authors.affiliation: Lee Gil Ya Cancer and Diabetes Institute, Gachon University of Medicine and Science, Yunsu-Gu, Incheon, Republic of Korea.
authors.forename: Eun-Hye
authors.initials: EH
authors.lastname: Moon
authors.forename: Mi-Jung
authors.initials: MJ
authors.lastname: Kim
authors.forename: Keum Soun
authors.initials: KS
authors.lastname: Ko
authors.forename: Yoo Sung
authors.initials: YS
authors.lastname: Kim
authors.forename: Jiyoung
authors.initials: J
authors.lastname: Seo
authors.forename: S Paul
authors.initials: SP
authors.lastname: Oh
authors.forename: Young Jae
authors.initials: YJ
authors.lastname: Lee
mesh_terms: D030201:Activin Receptors, Type I / Q000235:genetics / Q000502:physiology; D030301:Activin Receptors, Type II; D000483:Alleles; D000595:Amino Acid Sequence; D000818:Animals; D002478:Cells, Cultured; D004622:Embryo, Mammalian; D042783:Endothelial Cells / Q000378:metabolism / Q000502:physiology; D018014:Gene Transfer Techniques; D017930:Genes, Reporter / Q000502:physiology*; D008565:Membrane Proteins / Q000235:genetics*; D051379:Mice; D008822:Mice, Transgenic; D008954:Models, Biological; D008969:Molecular Sequence Data; D009928:Organ Specificity / Q000235:genetics; D017386:Sequence Homology, Amino Acid; D019076:Transgenes / Q000502:physiology; D054928:Validation Studies as Topic
chemical_list: D008565:Membrane Proteins; C556658:Tmem100 protein, mouse; D030201:Activin Receptors, Type I; D030301:Activin Receptors, Type II; C498931:Acvrl1 protein, mouse