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Phenotypes Associated with This Genotype
Genotype
MGI:5424992
Allelic
Composition
Acta1tm1Hrd/Acta1+
Genetic
Background
either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6JArc)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Acta1tm1Hrd mutation (1 available); any Acta1 mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• 52-61% of males die by 13 weeks of age (J:184588)
• 3-5% of females die by 13 weeks of age (J:184588)
• 52-61% of males die by 13 weeks of age (J:184588)
• 3-5% of females die by 13 weeks of age (J:184588)

growth/size/body
• whole body weight is reduced (J:184588)
• whole body weight is reduced (J:184588)

behavior/neurological
• forearm grip strength significantly reduced through 8 weeks of age (J:184588)
• absolute twitch and tetanic force is reduced to 30-40% of controls in extensor digitorum longus muscle (J:184588)
• forearm grip strength significantly reduced through 8 weeks of age (J:184588)
• absolute twitch and tetanic force is reduced to 30-40% of controls in extensor digitorum longus muscle (J:184588)
• significantly reduced mobility in open field tests through 12 weeks of age (J:184588)
• significantly reduced mobility in open field tests through 12 weeks of age (J:184588)

muscle
• nemaline rods in cytoplasm and nucleus of muscle fibers and cardiomyocytes (J:184588)
• areas of myofiber degeneration and repair (J:184588)
• 27% increase in myosin type 1 fibers (J:184588)
• nemaline rods in cytoplasm and nucleus of muscle fibers and cardiomyocytes (J:184588)
• areas of myofiber degeneration and repair (J:184588)
• 27% increase in myosin type 1 fibers (J:184588)
• sarcomeric filament arrays replaced by electron dense (thick fiber) and light (thin fiber) areas (J:184588)
• sarcomeric filament arrays replaced by electron dense (thick fiber) and light (thin fiber) areas (J:184588)
• atrophy of facial muscles (J:184588)
• atrophy of facial muscles (J:184588)

vision/eye
• watery eyes (J:184588)
• watery eyes (J:184588)

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


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
02/02/2016
MGI 6.02
The Jackson Laboratory