Mouse Genome Informatics
tg
    Tg(ACTA1*D286G/EGFP)#Kjno/0
involves: C57BL/6J * CBA/Ca
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
homeostasis/metabolism
• 1-month old mutants exhibit reduced voluntary running wheel activity over a 7-day period, with an average distance traveled per day about 30% less than that of wild-type mice
• however, average and maximum speeds of running are similar to wild-type

muscle
• muscles exhibit thickened Z disks and extensions of Z disks
• skeletal muscle exhibits internal nuclei, core-like regions, cores containing rods, granulofilamentous electron-dense inclusions and ringbinden (myofibrils arranged concentrically around the bulk of longitudinally oriented myofibrils)
• mutants develop rod-like bodies in muscle similar to nemaline bodies seen in nemaline myopathy
• altered skeletal muscle contractile performance, especially in the predominately slow twitch soleus (SOL) muscle
• the peak specific twitch force is diminished in SOL muscles compared to wild-type, however no differences are seen in extensor digitorum longus (EDL) muscles
• no differences in contraction or relaxation times of the twitch responses in EDL or SOL muscles
• EDL and SOL muscles are weaker than wild-type muscles at 4 weeks of age
• maximal specific force is decreased in both extensor digitorum longus (EDL) and soleus (SOL) muscles, being 79% and 42% of wild-type, respectively
• SOL muscles require a greater stimulation frequency to produce a similar amount of force to wild-type
• the peak specific twitch force is diminished in SOL muscles compared to wild-type, however no differences are seen in EDL muscles

behavior/neurological
• 1-month old mutants exhibit reduced voluntary running wheel activity over a 7-day period, with an average distance traveled per day about 30% less than that of wild-type mice
• however, average and maximum speeds of running are similar to wild-type

Mouse Models of Human Disease
OMIM IDRef(s)
Nemaline Myopathy 3; NEM3 161800 J:182255