Mouse Genome Informatics
hm
    Coq9tm1.1Lcl/Coq9tm1.1Lcl
involves: C57BL/6 * C57BL/6NTac * SJL
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• all mice die between 3 and 6 months

nervous system
• caspase-independent
• in the brain white matter and medulla oblongata
• in the pons and medulla oblongata
• in the pons, cerebellum and encephalon
• loss of dendrites
• with neuronal death

behavior/neurological
• mildly at 3 months
• at 5 months
• at 3 and 5 months
• mild alterations in walking at 3 to 6 months
• rapid and progressive between 3 and 6 months

growth/size
• at 3 months
• at 3 and 6 months
• at 3 to 6 months

homeostasis/metabolism
• mice exhibit a reduction in coenzyme Q9 and Q10 in the cerebrum, cerebellum, heart, kidney, hind legs skeletal muscle and liver compared with wild-type mice

cardiovascular system

cellular
• caspase-independent
• reduced complex I, mitochondrial respiration and ATP synthesis in the brain
• oxidative damage in the brain

integument
• at P20 to P22, mice exhibit hair loss that is recovered in the next hair growth cycle

muscle
• encephalomyopathy

Mouse Models of Human Disease
OMIM IDRef(s)
Coenzyme Q10 Deficiency, Primary, 5; COQ10D5 614654 J:193288