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Mouse Model for Cerebral Cavernous Malformation, an Inherited Brain Disorder

Posted Jun 14 2011 8:00pm

Description of Invention:
Cerebral Cavernous Malformation (CCM) is a brain disease affecting up to 0.5% of the worldwide population. CCM is characterized by grossly dilated vessels prone to leaking and hemorrhage which result in severe headaches, seizures, and strokes. Inherited forms of the disease are due to mutations in one of three loci, CCM1, CCM2, and CCM3. Prior efforts to develop mice with targeted null mutations in Ccm1, Ccm2, or Ccm3 have been unsuccessful, as such mutations result in embryonic death.

The inventors have developed the first mouse model available for the study of CCM, in which mouse Ccm2 can be conditionally deleted in blood-accessible and endothelial cells, resulting in neurological defects, ataxia, and brain hemorrhages consistent with the human disease. The model was generated through a cross of C57BL/6 Ccm2-floxed mice with C57BL/6 MX-1-Cre mice, which permits inducible ablation by polyinosinic:polycytidylic acid (pIpC).

Yoh-Suke Mukouyama (NHLBI)
Ulrich Siebenlist (NIAID)

Patent Status:
HHS, Reference No. E-158-2011/0

Research Material — Patent protection is not being pursued for this technology.

Licensing Status:
Available for licensing under a Biological Materials License Agreement.

Internal Medicine
Internal Medicine - Research Materials
Research Materials

For Licensing Information Please Contact:
Tara Kirby Ph.D.
NIH Office of Technology Transfer
6011 Executive Blvd. Suite 325,
Rockville, MD 20852
United States
Phone: 301-435-4426
Fax: 301-402-0220

Ref No: 2264

Updated: 06/2011

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