Developing a Zebrafish Model of NF1 for Structure-Function Analysis and Identification of Modifier Genes

Abstract

This progress report summarizes the second year of activity of this project focused on the identification and characterization of the zebrafish orthologs of the neurofibromatosis type 1 genes. This project involves work within the Epstein laboratory and collaboration with the laboratory of Dr. Thomas Look at the Dana Farber Cancer Institute as a sub-contract. This progress report summarized the collaborative work including results from both groups. During the first year, significant progress had been made in the isolation and characterization of two zebrafish orthologs, nf1a and nf1b. The genes have been sequenced and their expression patterns identified. The knockdown phenotypes have been characterized and include overgrowth of glia and cardiovascular abnormalities. During the second year, these knockdown phenotypes have been further characterized and stable fish lines harboring mutations in these genes have been generated and procured with additional work underway. Manuscripts have been submitted for publication and are presently being updated to address reviewers? comments.

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Document Details

Document Type
Technical Report
Publication Date
Apr 01, 2009
Accession Number
ADA502775

Entities

People

  • Jonathan A. Epstein

Organizations

  • University of Pennsylvania

Tags

DTIC Thesaurus Topics

  • Abnormalities
  • Animals
  • Blood
  • Brain
  • Cardiovascular System
  • Cells
  • Chromosomes
  • Confocal Microscopy
  • Diseases And Disorders
  • Embryos
  • Fish
  • Genes
  • Genetics
  • Identification
  • Phenotypes
  • Proteins
  • Spinal Cord

Fields of Study

  • Biology

Readers

  • Molecular Biology and Genetics
  • Molecular and genetic basis of cancer.
  • Research Science/Academic Research