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

  • Cat eye syndrome
  • Mouse
  • CECR1

• Graduation date

  Spring 2010

• 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.