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 β-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.
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Riazi, A.M., Arsdell, G.V. & Buchwald, M. Transgenic expression of CECR1 adenosine deaminase in mice results in abnormal development of heart and kidney. Transgenic Res 14, 333–336 (2005). https://doi.org/10.1007/s11248-005-1174-2
- adenosine deaminase
- cat eye syndrome
- developmental defect
- transgenic mice