Phenotypes Associated with This Genotype

Genotype
MGI:5316720

• Allelic Composition: Tg(ACTA1*D286G/EGFP)#Kjno/0
• Genetic Background: involves: C57BL/6J * CBA/Ca

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

homeostasis/metabolism

decreased aerobic running capacity ( J:182255 )

• 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

abnormal Z line morphology ( J:182255 )

• muscles exhibit thickened Z disks and extensions of Z disks

abnormal skeletal muscle morphology ( J:182255 )

• 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

impaired skeletal muscle contractility ( J:182255 )

• 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

muscle weakness ( J:182255 )

• 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

decreased aerobic running capacity ( J:182255 )

• 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		DO ID	OMIM ID(s)	Ref(s)
nemaline myopathy 3		DOID:0110927	OMIM:161800	J:182255