STIM1 R304W causes muscle degeneration and impaired platelet activation in mice
STIM1 and ORAI1 regulate store-operated Ca 2+ entry (SOCE) in most cell types, and
mutations in these proteins have deleterious and diverse effects. We established a mouse
line expressing the STIM1 R304 W gain-of-function mutation causing Stormorken syndrome
to explore effects on organ and cell physiology. While STIM1 R304 W was lethal in the
homozygous state, surviving mice presented with reduced growth, skeletal muscle
degeneration, and reduced exercise endurance. Variable STIM1 expression levels between …
mutations in these proteins have deleterious and diverse effects. We established a mouse
line expressing the STIM1 R304 W gain-of-function mutation causing Stormorken syndrome
to explore effects on organ and cell physiology. While STIM1 R304 W was lethal in the
homozygous state, surviving mice presented with reduced growth, skeletal muscle
degeneration, and reduced exercise endurance. Variable STIM1 expression levels between …