Analysis Tools
mortality/aging
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• 50% of mice die by 7 days of age and none survive past 3 weeks of age
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growth/size/body
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• at P8, surviving mice are visibly smaller than wild-type controls
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• mice exhibit reduced growth within several days of birth
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muscle
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• at P8, a subset of diaphragm muscle fibers show complete loss of sarcomere organization
• however, sarcomere thin filament lengths are not decreased in P5 tibialis anterior muscles
|
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• at P8, a subset of diaphragm muscle fibers exhibit widened Z-discs that resemble nemaline bodies
• other diaphragm myofibers display irregular, wave-like structures known as Z line streaming
• at P1, diaphragm muscles appear relatively normal; however, subtle Z-line defects may be present
|
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• expression analysis of thin filament proteins revealed that nebulin (NEB) is decreased by ~50% while leiomodin 3 (LMOD3) is nearly abolished in P1 and P8 quadriceps muscles, leading to destabilization of thin filaments and sarcomere dysfunction
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• severe skeletal muscle dysfunction that likely contributes to lethality
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• at P1, the maximum tetanic force of whole hind limbs following 150-Hz stimulation is reduced by >50%
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• >50% reduction in hind limb strength at P1
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cardiovascular system
small heart
(
J:213780
)
|
• at P5-P11, hearts are smaller but otherwise normal
|
|
• at P5, heart rate is decreased by 15%
• however, fractional shortening is relatively normal
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| nemaline myopathy 8 | DOID:0110930 |
OMIM:615348 |
J:213780 | |
