Phenotypes Associated with This Genotype

Genotype
MGI:3789954

• Allelic Composition: Tg(ACTA1-MYOT)12Mah/?
• Genetic Background: involves: C57BL/6 * SJL

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

muscle

abnormal sarcolemma morphology ( J:110377 )

• small eosinophilic aggregates are found beneath the sarcolemma in quadriceps and triceps of mice 18 months in age

• these sub-sarcolemmal aggregates are usually under 5 micrometers in diameter and contain fragmented vesicles

abnormal skeletal muscle morphology ( J:110377 )

• transgene expression of human myotilin occurs in skeletal muscle

• level of transgene expression is 7.7 fold higher than endogenous mouse myotilin levels