Phenotypes Associated with This Genotype

Genotype
MGI:5444222

• Allelic Composition: Tg(ACTA1-TPM3*M9R)4Hrd/0
• Genetic Background: FVB/NJ-Tg(ACTA1-TPM3*M9R)4Hrd

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

muscle

abnormal skeletal muscle morphology ( J:67596 )

• mice exhibit an increase in the number of slow/fast oxidative fibers compared with wild-type mice

abnormal skeletal muscle fiber morphology ( J:67596 )

• mice develop nemaline rods in muscles resulting in Z line streaming and disruption of sarcomeric register

• mice develop cytoplasmic bodies and tubular aggregates of the sarcoplasmic reticulum

• the number of fibers containing rods and rod size is different in different muscles

increased skeletal muscle fiber size ( J:67596 )

• mice exhibit hypertrophy of fast, glycolytic fibers

abnormal muscle physiology ( J:67596 )

• skinner fibers exhibit minor changes in response to strontium sensitivity compared with wild-type fibers

muscle weakness ( J:67596 )

• late onset

myopathy ( J:67596 )

• nemaline myopathy

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
nemaline myopathy 1		DOID:0110926	OMIM:609284	J:67596