behavior/neurological
• forelimb grip strength is less than 50% of that of controls
|
growth/size/body
• lean mass, but not fat mass, is decreased
|
• by 4 weeks of age, mice weigh 50% less than wild-type mice
|
• postnatal growth retardation as early as 1 week of age
|
muscle
• disorganized sarcomeric structures in skeletal muscles
• 62.2% of tibialis anterior myofibers display a disorganized sarcomere structure
• length of the less organized thin filaments are shorter
|
• Z-lines are widened and disorganized in many myofibers
|
• presence of nemaline bodies predominantly in atrophic skeletal muscles
• only some myofibers are smaller in size; these are type IIb-positive (fast) fibers
• mice have more type I fibers in type-IIb-predominant muscle
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• atrophic myofibers with internalized nuclei in tibialis anterior, gastrocnemius, and quadriceps muscles
• muscle atrophy specific to the fast myofibers
• however, soleus muscles appear normal
|
• severe muscle weakness
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
nemaline myopathy 10 | DOID:0110931 |
OMIM:616165 |
J:223382 |