Mouse Genome Informatics
ht
    Acta1tm1Hrd/Acta1+
either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6JArc)
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• 52-61% of males die by 13 weeks of age
• 3-5% of females die by 13 weeks of age

growth/size
• whole body weight is reduced

behavior/neurological
• forearm grip strength significantly reduced through 8 weeks of age
• absolute twitch and tetanic force is reduced to 30-40% of controls in extensor digitorum longus muscle
• significantly reduced mobility in open field tests through 12 weeks of age

muscle
• nemaline rods in cytoplasm and nucleus of muscle fibers and cardiomyocytes
• areas of myofiber degeneration and repair
• 27% increase in myosin type 1 fibers
• sarcomeric filament arrays replaced by electron dense (thick fiber) and light (thin fiber) areas
• atrophy of facial muscles

vision/eye
• watery eyes

Mouse Models of Human Disease
OMIM IDRef(s)
Nemaline Myopathy 3; NEM3 161800 J:184588