title: Transgenic expression of CECR1 adenosine deaminase in mice results in abnormal development of heart and kidney.
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.
authors.affiliation: Division of Cardiovascular Surgery, Hospital for Sick Children, Toronto, ON, Canada. ali.riazi@sickkids.ca
authors.forename: Ali M
authors.initials: AM
authors.lastname: Riazi
authors.forename: Glen
authors.initials: G
authors.lastname: Van Arsdell
authors.forename: Manuel
authors.initials: M
authors.lastname: Buchwald
mesh_terms: D000199:Actins / Q000235:genetics; D000243:Adenosine Deaminase; D000818:Animals; D004195:Disease Models, Animal; D006321:Heart; D006330:Heart Defects, Congenital / Q000235:genetics* / Q000473:pathology; D036341:Intercellular Signaling Peptides and Proteins / Q000235:genetics* / Q000378:metabolism; D007668:Kidney / Q000002:abnormalities* / Q000473:pathology; D051379:Mice; D008822:Mice, Transgenic; D011401:Promoter Regions, Genetic; D024723:Ventricular Myosins / Q000235:genetics
chemical_list: D000199:Actins; D036341:Intercellular Signaling Peptides and Proteins; C408373:ADA2 protein, human; D000243:Adenosine Deaminase; D024723:Ventricular Myosins