title: A coagulation factor IX-deficient mouse model for human hemophilia B.
abstract: Coagulation factor IX deficiency causes hemophilia B in humans. We have used gene targeting to develop a coagulation factor IX-deficient (factor IX-knockout) mouse strain. Mouse embryonic stem (ES) cells were targeted by a socket-containing vector that replaces the promoter through exon 3 of the factor IX gene by neoDeltaHPRT, which is a functional neo gene plus a partially deleted hypoxanthine phosphoribosyl transferase minigene. Chimeric mice generated using these socket-containing ES cells transmitted the targeted factor IX gene to their female offspring. Male offspring from these females were characterized and shown to exhibit a phenotype similar to hemophilia B. This factor IX-deficient mouse strain will be useful for studying gene therapy methods and structure-function relationships of recombinant factor IX proteins in vivo.
authors.affiliation: Department of Biology, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599-3280, USA.
authors.forename: H F
authors.initials: HF
authors.lastname: Lin
authors.forename: N
authors.initials: N
authors.lastname: Maeda
authors.forename: O
authors.initials: O
authors.lastname: Smithies
authors.forename: D L
authors.initials: DL
authors.lastname: Straight
authors.forename: D W
authors.initials: DW
authors.lastname: Stafford
mesh_terms: D000818:Animals; D004195:Disease Models, Animal; D005164:Factor IX / Q000235:genetics / Q000378:metabolism*; D005260:Female; D002836:Hemophilia B; D006801:Humans; D008297:Male; D051379:Mice; D018345:Mice, Knockout
chemical_list: D005164:Factor IX