[HTML][HTML] Targeted disruption of the ATP2A1 gene encoding the sarco (endo) plasmic reticulum Ca2+ ATPase isoform 1 (SERCA1) impairs diaphragm function and is …

Y Pan, E Zvaritch, AR Tupling, WJ Rice… - Journal of Biological …, 2003 - ASBMB
Mutations in the ATP2A1 gene, encoding isoform 1 of the sarco (endo) plasmic reticulum Ca
2+-ATPase (SERCA1), are one cause of Brody disease, characterized in humans by
exercise-induced contraction of fast twitch (type II) skeletal muscle fibers. In an attempt to
create a model for Brody disease, the mouse ATP2A1 gene was targeted to generate a
SERCA1-null mutant mouse line. In contrast to humans, term SERCA1-null mice had
progressive cyanosis and gasping respiration and succumbed from respiratory failure …