Phenotypes Associated with This Genotype

Genotype
MGI:5052046

• Allelic Composition: Tg(Myh7-Pln)2Egk/0
• Genetic Background: FVB/N-Tg(Myh7-Pln)2Egk

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

behavior/neurological

impaired exercise endurance ( J:224766 )

• mice reach exhaustion much sooner than wild-type mice during a treadmill exercise test

muscle

decreased soleus weight ( J:224766 )

• soleus:body-weight ratio at 1 month, 4-6 months and 10-12 months of age shows a 21%, 43%, and 41% reduction, respectively

abnormal skeletal muscle fiber morphology ( J:224766 )

• soleus muscle exhibits type I fiber hypotrophy as early as 1 month of age and type II fiber hypertrophy

• muscle fibers show radiating sarcoplasmic reticulum strands

centrally nucleated skeletal muscle fibers ( J:224766 )

• central nucleation of muscle fibers with low regeneration, progressive fibrosis and a small elevation in plasma creatine kinase indicate centronuclear myopathy

• both soleus and gluteus minimus muscle show signs of centronuclear myopathy

abnormal skeletal muscle fiber type ratio ( J:224766 )

• type I fiber predominance is established at 4-6 months of age

skeletal muscle atrophy ( J:94077 , J:224766 )

• soleus muscle atrophy (J:224766)

skeletal muscle fibrosis ( J:224766 )

• soleus muscles show progressive fibrosis

skeletal muscle endomysial fibrosis ( J:224766 )

• endomysial fibrosis in postural gluteus minimus muscle

abnormal muscle physiology ( J:224766 )

• maximal rates of sarco(endo)plasmic reticulum calcium-ATPase activity and rates of calcium uptake are reduced in soleus muscle

• gluteus minimus muscle shows a 20% reduction in the rates of calcium uptake

impaired skeletal muscle contractility ( J:94077 )

• soleus muscle exhibits slow rates of contraction and relaxation

muscle weakness ( J:224766 )

• mice generate lower normalized force at both submaximal and maximal stimulation frequencies (30-100 Hz)

• twitch kinetics are slower in soleus muscle

• however, normalized twitch force generation is not different

myopathy ( J:224766 )

• soleus muscles show greater central nucleation of fibers, fiber splitting, atrophy and progressive fibrosis, which becomes evident at 4-6 months of age indicating myopathy

cellular

oxidative stress ( J:224766 )

• mice show greater whole muscle oxidative stress

• soleus muscle exhibits central aggregation of oxidative activity

homeostasis/metabolism

impaired exercise endurance ( J:224766 )

• mice reach exhaustion much sooner than wild-type mice during a treadmill exercise test

increased creatine kinase activity ( J:224766 )

• small elevation of plasma creatine kinase levels in 4-6 month old mice

limbs/digits/tail

decreased soleus weight ( J:224766 )

• soleus:body-weight ratio at 1 month, 4-6 months and 10-12 months of age shows a 21%, 43%, and 41% reduction, respectively

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
centronuclear myopathy		DOID:14717		J:224766