Phenotypes Associated with This Genotype

Genotype
MGI:5566913

• Allelic Composition: Acta1^tm1Jll/Acta1⁺; Tg(ACTA1*D286G)#Kjno/Tg(ACTA1*D286G)#Kjno
• Genetic Background: involves: C57BL/6 * CBA

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

mortality/aging

premature death ( J:209273 )

• only about 18% of mice survive to sexual maturity

growth/size/body

decreased body weight ( J:209273 )

• between P10 and P12, pups show reduced body mass

behavior/neurological

hindlimb paralysis ( J:209273 )

• about 82% of mutants develop severe hindlimb paralysis and immobility between P8 and P17

muscle

abnormal muscle fiber morphology ( J:209273 )

• about 20% of muscle fibers display widespread myofibril disorganization

• subsarcolemmal accumulations of fine filaments and atrophic fibers

• fast-twitch predominant and slow-twitch soleus muscle of adults shows large aggregates that correspond to regions of nemaline bodies

• Ringbinden are prominent in fast-twitch muscle of surviving mutants

abnormal Z line morphology ( J:209273 )

• Z-band fragmentation and streaming

abnormal skeletal muscle morphology ( J:209273 )

• skeletal muscles show numerous aggregates of filamentous actin and the presence of nemaline bodies

increased variability of skeletal muscle fiber size ( J:209273 )

• large variations in myofiber size

reproductive system

reduced fertility ( J:209273 )

• the mutants that survive to sexual maturity are poor breeders, producing no, or only a few small litters

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
nemaline myopathy 3		DOID:0110927	OMIM:161800	J:209273