Phenotypes Associated with This Genotype

Genotype
MGI:5550446

• Allelic Composition: X/Tg(ACTA1-STIM1)2Jmol
• Genetic Background: involves: FVB/N

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

cellular

abnormal mitochondrial morphology ( J:101977 )

♂ • mitochondria from muscle appear fragmented, swollen and/or ruptured

abnormal mitochondrial shape ( J:101977 )

♂

homeostasis/metabolism

abnormal calcium ion homeostasis ( J:101977 )

♂ • measurement of store-operated Ca²⁺ entry (SOCE) in flexor digitorum brevis fibers indicates a 2-fold increase in Ca²⁺> influx

muscle

centrally nucleated skeletal muscle fibers ( J:101977 )

♂ • diaphragm, quadriceps, and soleus exhibit an increased incidence of myofibers with centrally localized nuclei at 6 weeks and 6 months of age

skeletal muscle interstitial fibrosis ( J:101977 )

♂