Analysis Tools
muscle
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• broadening of Z-discs occurs in older mice
• Z-discs can subsequently merge into streaming bodies involving multiple Z-discs
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• transgene expression of human myotilin containing a point mutation occurs in skeletal muscle
• level of transgene expression is 2.6 fold higher than endogenous mouse myotilin
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• mice develop dense and irregular myofibrillar aggregates in the quadriceps, triceps, and the extensor digitorum longus (EDL) muscles
• myofibrillar aggregates are often associated with autophagic vesicles
• the aggregations are progressive with age starting at 2 weeks when small focal points of aggregation are detectable
• aggregates expand up to 40 micrometers and will often occupy the entire cross-sectional area of the myofibers of older mice
• the proportion of myofibers containing aggregates is 11-12% at 6 months and 17-18.2% at 12 months of age
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• fibrosis and adipose infiltration are associated with the myofibrillar aggregates that occurs in older mice
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• 8-10 month old mice have 33% less mass in their EDL muscle than in wild-types
• the cross sectional area of the EDL myofibers is reduced to a similar degree
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• the specific maximum force of the EDL muscle from 8-10 month old male mice is reduced by 24% and the maximum isometric force is reduced by 46%
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• muscle contractility of the EDL muscle from 8-10 month old mice is substantially reduced
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| myofibrillar myopathy 3 | DOID:0080094 |
OMIM:609200 |
J:110377 | |
