Phenotypes Associated with This Genotype

Genotype
MGI:3836901

• Allelic Composition: Tg(ACTB-Twnk*)DSuom/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 morphology ( J:104378 )

• deletions in mitochondrial DNA accumulate unlike in wild-type mice

abnormal cellular respiration ( J:104378 )

• at 18 months, mice exhibit COX-SDH+, markers of decreased respiratory function and increased proliferation, muscles and brain cells unlike wild-type mice

abnormal DNA repair ( J:104378 )

• deletions in mitochondrial DNA accumulate unlike in wild-type mice

increased mitochondrial fission ( J:104378 )

• at 18 months, mice exhibit COX-SDH+, markers of decreased respiratory function and increased proliferation, muscles and brain cells unlike wild-type mice

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, muscle fibers exhibit an increase in the number and size of mitochondria compared to in wild-type mice

• severely affected muscle fibers exhibit large mitochondria with concentric cristae and electron-dense inclusions unlike in wild-type mice

• however, total respiration capacity of the muscle is normal

• at 18 months, mice exhibit COX-SDH+, markers of decreased respiratory function and increased proliferation, muscles cells unlike wild-type mice

nervous system

abnormal brain morphology ( J:104378 )

• at 18 months, 1% of Purkinje cells in the cerebellum and a few neurons in the olfactory bulbs, substantia nigra, and hypothalamus are COX-SDH+ unlike in wild-type mice that have no COX-SDH+ brain cells

homeostasis/metabolism

abnormal DNA repair ( J:104378 )

• deletions in mitochondrial DNA accumulate unlike in wild-type mice

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