C09948: A Mouse Model of Hemophilia A

Case ID:
C09948
Disclosure Date:
2/16/1995

Overview:

These knock-out mice are deficient of endogenous Factor VIII making them useful for hemophilia A studies. The mice are available via The Jackson Laboratory Strain: 004424; B6;129S4-F8tm1Kaz/J

 

Technical Details

Mice that are homozygous for the targeted, X chromosome-linked mutant allele are viable and fertile. Homozygous females and carrier males have less than 1% of normal factor VIII activity and exhibit prolonged clotting times. Care should be used when obtaining tail clippings for the purpose of genotyping. Clipped tails of affected mice must be cauterized immediately or the mouse will succumb to excessive blood loss within several hours. Only mice that have reached the age of 4 weeks or older should have their tails clipped. Published reports indicate that spontaneous bleeding into joints or soft tissues, and that no bleeding difficulties are apparent during birth. These mice recapitulate key features of hemophilia A and provide an excellent model for use in exploring gene therapy strategies.

 

Development

A targeting vector containing a neo cassette was used to disrupt exon 16. The construct was introduced into 129S4/SvJae-derived J1 embryonic stem (ES) cells. Correctly targeted ES cells were injected into C57BL/6 blastocysts.

©The Jackson Laboratory 2016 used with permission.


ASSOCIATED PUBLICATION

Nat Genet. 1995 May;10(1):119-21

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Anum Afzal
aafzal7@jhu.edu
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