Phenotypes Associated with This Genotype

Genotype
MGI:3836900

• Allelic Composition: Tg(ACTB-Twnk*A360T)HSuom/0
• Genetic Background: involves: FVB/N

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

mortality/aging

mortality/aging ( J:104378 )

N • mice exhibit normal aging and life span

cellular

abnormal mitochondrial physiology ( J:104378 )

• at 18 months, mice exhibit a few COX- muscle fibers, indicating reduced mitochondrial function, unlike in wild-type mice

• however, total respiration capacity of the muscle is normal

muscle

muscle phenotype ( J:104378 )

N • despite mitochondrial defects, mice exhibit normal muscle strength and performance

abnormal muscle fiber morphology ( J:104378 )

• at 18 months, mice exhibit a few COX- muscle fibers, indicating reduced mitochondrial function, unlike in wild-type mice

• however, total respiration capacity of the muscle is normal

behavior/neurological

behavior/neurological phenotype ( J:104378 )

N • despite mitochondrial defects, mice exhibit normal muscle strength and performance

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3		DOID:0111520	OMIM:609286	J:104378