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| Licensing & Royalties >> Licensing Opportunities >> Abstract Details |
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| Mouse Model with Targeted Disruption of the Neurofibromatosis Type-1 (Nf1) Gene |
Description of Invention:
This invention relates to a mouse model having a targeted disruption of the neurofibromatosis type-1 (NF1) gene.
The neurofibromatosis (NF1) gene shows significant homology to mammalian GAP and is an important regulator of the Ras signal transduction pathway. To study the function of NF1 in normal development and to develop a mouse model of NF1 disease, the inventors have used gene targeting in ES cells to generate mice carrying a null mutation at the mouse Nf1 locus. Although heterozygous mutant mice, aged up to 10 months, have not exhibited any obvious abnormalities, homozygous mutant embryos die in utero. Embryonic death is likely attributable to a severe malformation of the heart. Interestingly, mutant embryos also display hyperplasia of neural crest-derived sympathetic ganglia. These results identify new roles for NF1 in development and indicate that some of the abnormal growth phenomena observed in NF1 patients can be recapitulated in neurofibromin-deficient mice. In addition, lethally-irradiated wild type mice transplanted with fetal liver cells taken from NF1 null embryos develop a form of juvenile chronic myelomonocytic leukemia (JMML) that is very similar to what is seen in children with NF1 disease.
Applications:
- Research tool in studying some forms of human neuron diseases/injuries in addition to juvenile chronic myelomonocytic leukemia (JMML).
- Testing various therapeutic treatments for this disease.
Inventors:
Neal G Copeland (NCI)
Patent Status:
HHS, Reference No. E-162-2004/0
Research Tool -- patent protection is not being pursued for this technology
Licensing Status:
Available for licensing under a Biological Materials License Agreement.
For Licensing Information Please Contact:
Uri Reichman Ph.D., M.B.A.
NIH Office of Technology Transfer
6011 Executive Blvd. Suite 325
Room 26,
Rockville, MD 20852
United States
Email: reichmau@mail.nih.gov
Phone: 301-435-4616
Fax: 301-402-0220
Ref No: 926
Updated: 05/2009
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