Journal of Undergraduate Research
Keywords
genetic rescue, Irk 2, inwardly rectifying potassium, ATS, Anderson-Tawil Syndrome
College
Physical and Mathematical Sciences
Department
Chemistry and Biochemistry
Abstract
Anderson-Tawil Syndrome (ATS) is characterized by morphological defects including clinodactyly (abnormal curvature of digits), syndactyly (fused digits), micrognathia (small jaw), cleft palate, and hypertelorism (wide-set eyes) as well as periodic paralysis and heart arrhythmia. Mutations in inwardly rectifying potassium (Irk) channels are found in patients with ATS. Expression of mutant Irk channels causes similar physiological and morphological defects in mice.1
Recommended Citation
Gassaway, Brandon and Bates, Dr. Emily
(2014)
"Genetic Rescue of the Irk 2 Knockout Phenotype by Ectopic Expression of Irk 2 WT,"
Journal of Undergraduate Research: Vol. 2014:
Iss.
1, Article 1089.
Available at:
https://scholarsarchive.byu.edu/jur/vol2014/iss1/1089