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Journal of Undergraduate Research

Keywords

Kir2.1, craniofacial development, limb development, knockout mice

College

Physical and Mathematical Sciences

Department

Chemistry and Biochemistry

Abstract

Birth defects arise because of both genetic and environmental factors. Children with genetic alteration of the inwardly-rectifying potassium ion channel Kir2.1 channel have heart arrhythmias, impaired cognitive function, and facial and limb abnormalities. Children that suffer from Fetal Alcohol Syndrome have cognitive and social development problems, heart defects, and facial abnormalities—including small eyes, small head, small upper jaw, and a small upper lip1. Kir2.1 is bound and blocked by alcohol2 and thus we predicted that it is the molecular target of Fetal Alcohol Syndrome. We designed experiments to determine how Kir2.1 is required during development and found that within 14 days of prenatal development, both facial and limb abnormalities are present in knockout mice embryos.

Included in

Chemistry Commons

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