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Characterizing the role of CECR1 in cat eye syndrome by using mouse models

  • Author / Creator
    Yang, Fang
  • CECR1 (cat eye syndrome chromosome region, candidate 1) is located on chromosome 22q11.2. Duplication of this region results in the human disorder cat eye syndrome (CES), which includes a variety of heart defects. CECR1 is suggested to be dosage sensitive, based on a predicted role in controlling extracellular adenosine level during development, and thus may be responsible for some of the CES features, including heart abnormalities. Animal models were established to study the effect of overexpressing CECR1 in hearts. Abnormal phenotypes in hearts were not detected in zebrafish embryos overexpressing zebrafish cecr1. Thinner right ventricular walls and atrioventricular (AV) valve disorganization were observed in embryos of the transgenic mouse line FVB/N-Tg(MHC-hCECR1), which expressed human CECR1 specifically in cardiac muscle. The observed phenotypes were not typical of patients with CES; however, disrupted adenosine level resulting from increased adenosine deaminase activity might be responsible for the phenotypes.

  • Subjects / Keywords
  • Graduation date
    2010-06
  • Type of Item
    Thesis
  • Degree
    Master of Science
  • DOI
    https://doi.org/10.7939/R3J37H
  • License
    This thesis is made available by the University of Alberta Libraries with permission of the copyright owner solely for non-commercial purposes. This thesis, or any portion thereof, may not otherwise be copied or reproduced without the written consent of the copyright owner, except to the extent permitted by Canadian copyright law.
  • Language
    English
  • Institution
    University of Alberta
  • Degree level
    Master's
  • Department
    • Department of Biological Sciences
  • Supervisor / co-supervisor and their department(s)
    • Heather McDermid (Biological Sciences)
  • Examining committee members and their departments
    • Roseline Godbout (Oncology)
    • Andrew Waskiewicz (Biological Sciences)