Haemophilia B model mice
Courtesy of Tsukasa Ohmori, M.D., Ph.D.
Increase in plasma coagulation factor Ⅸ (FIX) by administration of adeno-associated virus (AAV) vector(n=3, Mean±SEM).
Haemophilia B is an X-linked congenital hemorrhagic disease caused by mutations in coagulation factor Ⅸ genes (F9). The treatment is done by replacing the coagulation factors. However, it has some problems to be solved. Because these coagulation factors have extremely short half-life, patients need constant injection. Additionally, it is known that some patients develop antibodies to the coagulation factors. Establishment of new therapies is desired.
Haemophilia B model mice (RBRC10062) generated by CRISPR/Cas9 system have 12 bp deletion in exon 8 of F9 gene. This strain shows both bleeding phenotype and a reduction of plasma coagulation factor Ⅸ (FIX) activity, similar to the human condition. Actually, utilizing this model mice, a novel gene therapy strategy with CRISPR/Cas9 system and adeno-associated virus (AAV) vector was reported. This strain will help to develop the cure of haemophilia B.
|Depositor||:||Tsukasa Ohmori, M.D., Ph.D.
Department of Biochemistry, Jichi Medical University, School of Medicine
|Reference||:||Ohmori T, Nagao Y, Mizukami H, Sakata A Muramatsu SI, Ozawa K, Tominaga SI, Hanazono Y, Nishimura S, Nureki O, Sakata Y.
CRISPR/Cas9-mediated genome editing via postnatal administration of AAV vector cures haemophilia B mice.
Sci Rep.; 7(1):4159., 2017.
Contact: Saori Mizuno, Ph.D.
Experimental Animal Division, RIKEN BioResource Research Center
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