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Updated: Aug 16, 2026
Viral Transgene Expression in Rodent Hearts and the Assessment of Cardiac Arrhythmia Risk
Published on: July 27, 2022
Transgenic expression of CECR1 adenosine deaminase in mice results in abnormal development of heart and kidney
Ali M Riazi1, Glen Van Arsdell, Manuel Buchwald
1Division of Cardiovascular Surgery, Hospital for Sick Children, Toronto, ON, Canada. ali.riazi@sickkids.ca
Abstract:
Cat eye syndrome is a rare developmental defect associated with duplication of chromosome 22q11. The patients demonstrate specific abnormalities of heart, kidney, and eye. Here we attempted to produce a model for this defect by expressing CECR1 adenosine deaminase, a gene duplicated in cat eye syndrome patients, in mice. The transgenic mice expressed CECR1 under the control of either beta-actin promoter for ubiquitous expression or myosin heavy chain for heart-specific expression. The transgenics expressing CECR1 in the heart demonstrated high rate of embryonic and neonatal lethality. The mice from all the lines examined showed enlargement of the heart. Abnormalities of the kidney and eye were also detected in mice expressing CECR1 under control of the actin promoter.
Insights
Cat eye syndrome, a rare genetic disorder, was modeled in mice by overexpressing the CECR1 gene. This research revealed significant embryonic lethality and heart, kidney, and eye abnormalities in the affected mice.
Area of Science:
- Genetics
- Developmental Biology
- Animal Models
Background:
- Cat eye syndrome is a rare genetic disorder characterized by duplication of chromosome 22q11.
- Patients exhibit distinct heart, kidney, and eye abnormalities.
Purpose of the Study:
- To develop a mouse model for Cat eye syndrome by expressing the CECR1 adenosine deaminase gene.
- To investigate the effects of CECR1 duplication on embryonic development and organogenesis.
Main Methods:
- Generated transgenic mice with CECR1 expression under a ubiquitous (beta-actin) or heart-specific (myosin heavy chain) promoter.
- Monitored embryonic and neonatal survival rates.
- Assessed cardiac, renal, and ocular phenotypes in the transgenic mice.
Main Results:
- Transgenic mice with heart-specific CECR1 expression exhibited high embryonic and neonatal lethality.
- All examined transgenic lines displayed cardiac enlargement (cardiomegaly).
- Abnormalities in kidney and eye development were observed in mice with ubiquitous CECR1 expression.
Conclusions:
- Overexpression of CECR1 can recapitulate key features of Cat eye syndrome in a mouse model.
- CECR1 plays a critical role in embryonic development, particularly in cardiac, renal, and ocular systems.
- This mouse model provides a valuable tool for studying the pathogenesis of Cat eye syndrome and for developing therapeutic strategies.
