Phenotypes Associated with This Genotype

Genotype
MGI:5424992

• Allelic Composition: Acta1^tm1Hrd/Acta1⁺
• Genetic Background: either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6JArc)

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

mortality/aging

premature death ( J:184588 )

• 52-61% of males die by 13 weeks of age

• 3-5% of females die by 13 weeks of age

craniofacial

facial muscle atrophy ( J:184588 )

• atrophy of facial muscles

growth/size/body

facial muscle atrophy ( J:184588 )

• atrophy of facial muscles

decreased body weight ( J:184588 )

• whole body weight is reduced

behavior/neurological

decreased grip strength ( J:184588 )

• 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

decreased locomotor activity ( J:184588 )

• significantly reduced mobility in open field tests through 12 weeks of age

muscle

facial muscle atrophy ( J:184588 )

• atrophy of facial muscles

abnormal muscle fiber morphology ( J:184588 )

• nemaline rods in cytoplasm and nucleus of muscle fibers and cardiomyocytes

• areas of myofiber degeneration and repair

• 27% increase in myosin type 1 fibers

abnormal sarcomere morphology ( J:184588 )

• sarcomeric filament arrays replaced by electron dense (thick fiber) and light (thin fiber) areas

decreased muscle weight ( J:184588 )

vision/eye

blepharoptosis ( J:184588 )

excessive tearing ( J:184588 )

• watery eyes

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
nemaline myopathy 3		DOID:0110927	OMIM:161800	J:184588