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Zuma Mutant Mice as a Tool for Investigating Mammalian Developmental Defects

Posted Oct 21 2012 8:00pm

Description of Invention:

In vertebrates, mutations in different ribosomal protein subunits result in a variety of phenotypes, suggesting unique and perhaps extra-ribosomal functions for these proteins. Diamond-Blackfan Anemia (DBA) is a ribosomal protein disease, in which the bone marrow fails to produce red blood cells.

NHGRI investigators recently generated a mouse line with a mutation in small ribosomal protein7 (Rps7), known to be involved in DBA. This line named Zuma (made with the use of the mutagen N-ethyl-N-nitrosourea (ENU)) carries a point mutation in exon 7 of Rps7, which is predicted to cause a substitution of a conserved amino acid (pY177S). The mutation results in the disruption of ribosomal biogenesis, as well as in abnormal skeletal, melanocyte, and central nervous system development. Thus, the Zuma line can be used as a model of DBA, as well as a tool for investigating other defects of mammalian development.



Applications:
  • Animal model of Diamond-Blackfan Anemia (DBA)
  • Research tool to study other mammalian developmental defects


Advantages:
Not available elsewhere

Development Status:
  • Prototype
  • Pre-clinical
  • In vitro data available


Inventors:
William J Pavan (NHGRI)
Dawn E Watkins-Chow (NHGRI)


Patent Status:
HHS, Reference No. E-294-2012/0

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

Relevant Publication:
  1. Manuscript submitted


Collaborative Research Opportunity:
The Mouse Embryology Section of the National Human Genome Research Institute is seeking statements of capability or interest from parties interested in collaborative research to further develop, evaluate, or commercialize Diamond-Blackfan Anemia therapies. For collaboration opportunities, please contact Claire T. Driscoll, Director, NHGRI Technology Transfer Office, at cdriscoll@mail.nih.gov or 301-594-2235.


For Licensing Information Please Contact:
Betty Tong Ph.D.
NIH Office of Technology Transfer
6011 Executive Blvd. Suite 325,
Rockville, MD 20852
United States
Email: tongb@mail.nih.gov
Phone: 301-594-6565
Fax: 301-402-0220


Ref No: 2485

Updated: 10/2012

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