Mouse Genome Informatics
ht
    Sco2tm1.1Easc/Sco2tm2.1Easc
129X1/SvJ-Sco2tm1.1Easc/Sco2tm2.1Easc
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
homeostasis/metabolism
• mice perform poorer than wild-type mice on a treadmill
• mitochondrial copper content is decreased in the heart and liver compared to in wild-type mice
• however, total amount of copper in organs examined is normal
• by organ wet weight

muscle
• on a hanging wire test, mice display muscle weakness unlike wild-type mice
• male mice develop muscle weakness at 4 months while female mice develop muscle weakness at 8 months

liver/biliary system
• by organ wet weight

behavior/neurological
• mice exhibit impaired motor performance on a standard treadmill compared with controls
• treatment with AICAR improves motor performance
• mice perform poorer than wild-type mice on a treadmill

cellular
• complex IV activities were reduced in all examined tissues from the Sco2tm1.1Easc/Sco2tm2.1Easc mice (by approximately 20-60%), with the lowest values in liver (by approximately 60%)
• reduced complex III activities in all tissues from the mutant mice

Mouse Models of Human Disease
OMIM IDRef(s)
Mitochondrial Complex IV Deficiency 220110 J:155116