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Phenotypes Associated with This Genotype
involves: C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tg(ACTA1-MYOT*T57I)71Mah mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
• broadening of Z-discs occurs in older mice
• Z-discs can subsequently merge into streaming bodies involving multiple Z-discs
• 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
• 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
• fibrosis and adipose infiltration are associated with the myofibrillar aggregates that occurs in older mice
• 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
• 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%
• muscle contractility of the EDL muscle from 8-10 month old mice is substantially reduced

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
MGI 6.12
The Jackson Laboratory