title: Generation of a floxed allele of the mouse Endoglin gene.
abstract: Endoglin is an auxiliary receptor for TGFbeta signalling. Heterozygous germline Endoglin mutations have been identified in patients with the vascular abnormality, Hereditary Haemorrhagic Telangiectasia. Endoglin is upregulated in endothelial cells during angiogenesis and loss of Endoglin in the mouse results in embryonic lethality at mid-gestation. This phenotype points to an important role of Endoglin in new blood vessel formation but precludes analysis at later stages in development and in postnatal life. To bypass this limitation and allow further investigations of the function of Endoglin we have generated a floxed Endoglin allele in which loxP sites flank exons 5 and 6. Mice homozygous for this allele are normal and in the presence of appropriate Cre lines will allow time and cell specific Endoglin deletion for in vivo analysis of function in cardiovascular development and disease.
authors.affiliation: Institute of Human Genetics, International Centre for Life, University of Newcastle upon Tyne, United Kingdom.
authors.forename: Kathleen R
authors.initials: KR
authors.lastname: Allinson
authors.forename: Rita L C
authors.initials: RL
authors.lastname: Carvalho
authors.forename: Stieneke
authors.initials: S
authors.lastname: van den Brink
authors.forename: Christine L
authors.initials: CL
authors.lastname: Mummery
authors.forename: Helen M
authors.initials: HM
authors.lastname: Arthur
mesh_terms: D000483:Alleles; D000818:Animals; D002319:Cardiovascular System / Q000254:growth & development*; D000071063:Endoglin; D017353:Gene Deletion; D018390:Gene Targeting; D005822:Genetic Vectors; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics / Q000502:physiology*; D051379:Mice; D018345:Mice, Knockout / Q000235:genetics*
chemical_list: D000071063:Endoglin; C502004:Eng protein, mouse; D047908:Intracellular Signaling Peptides and Proteins