Mouse Genome Informatics
tg
    Tg(ACTB-Peo1*)DSuom/0
involves: FVB/N
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
N
• mice exhibit normal aging and life span (J:104378)

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

muscle
N
• despite mitochondrial defects, mice exhibit normal muscle strength and performance (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
• 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
• deletions in mitochondrial DNA accumulate unlike in wild-type mice

behavior/neurological
N
• despite mitochondrial defects, mice exhibit normal muscle strength and performance (J:104378)

Mouse Models of Human Disease
OMIM IDRef(s)
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 3; PEOA3 609286 J:104378