Basic Information
Description
This gene encodes vitamin K-dependent coagulation factor IX that circulates in the blood as an inactive zymogen. This factor is converted to an active form by factor XIa, which excises the activation peptide and thus generates a heavy chain and a light chain held together by one or more disulfide bonds. The role of this activated factor IX in the blood coagulation cascade is to activate factor X to its active form through interactions with Ca2+ ions, membrane phospholipids, and factor VIII. Alterations of this gene, including point mutations, insertions and deletions, cause factor IX deficiency, which is a recessive X-linked disorder, also called hemophilia B or Christmas disease.
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Targeting Strategy
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Details
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Genotyping Information
Primer Sequence (5’-3’) Tm
(℃)Product size
(bp)F9-Mut-F3 GGTACTGTGTACTGTTCCCAATTACAG
A63 WT: 7049
Mut: 563F9-Mut-R2 GAATTGGACCTCAGGTAGATGGAGC 63 F9-WT-F3 AACACGTTGCAGAAAGATCCTGTCA 63 WT: 474 F9-WT-R3 AAGTCAGCCTGTGAAATGTCCCTCA 64 Polymerase: Taq
Application
NovoSeven efficacy evaluation
Animals were randomly divided into Control group or NovoSeven (1 mg/kg), After 30 minutes treatment, the abdominal aorta was collected blood for ATPP (activated partial thromboplastin time) and FIB (Fibrinogen) detection. The results showed that the APTT recovered to normal after drug treatment compared with the control group. FIB values were not significantly different from WT mice. A:ATPP±SEM; B: FIB±SEM.
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References
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1. Blood. 1998 Jul 1;92(1):168-74
2. Proc Natl Acad Sci U S A. 1997 Oct 14;94(21):11563-6.