Phenotypes Associated with This Genotype

Genotype
MGI:4413664

• Allelic Composition: Sco2^tm1.1Easc/Sco2^tm2.1Easc
• Genetic Background: 129X1/SvJ-Sco2^tm1.1Easc/Sco2^tm2.1Easc

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

homeostasis/metabolism

impaired exercise endurance ( J:155116 )

• mice perform poorer than wild-type mice on a treadmill

abnormal copper level ( J:155116 )

• 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

increased liver copper level ( J:155116 )

• by organ wet weight

muscle

muscle weakness ( J:155116 )

• 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

increased liver copper level ( J:155116 )

• by organ wet weight

behavior/neurological

abnormal locomotor behavior ( J:176080 )

• mice exhibit impaired motor performance on a standard treadmill compared with controls

• treatment with AICAR improves motor performance

impaired exercise endurance ( J:155116 )

• mice perform poorer than wild-type mice on a treadmill

cellular

abnormal mitochondrial ATP synthesis coupled electron transport ( J:155116 )

• complex IV activities were reduced in all examined tissues from the Sco2^tm1.1Easc/Sco2^tm2.1Easc 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		DO ID	OMIM ID(s)	Ref(s)
cytochrome-c oxidase deficiency disease		DOID:3762	OMIM:PS220110	J:155116