Phenotypes Associated with This Genotype

Genotype
MGI:4413663

hm1

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

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

homeostasis/metabolism

abnormal copper level ( J:155116 )

• mitochondrial copper content is decreased in the heart compared to in wild-type mice

• however, total amount of copper in organs examined is normal

muscle

muscle weakness ( J:155116 )

• on a hanging wire test, 4 month old male mice display muscle weakness unlike wild-type mice

cellular

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

• complex IV activity was reduced in all tissues, but to a lesser extent (by approximately 15-45%) than in Sco2^tm1.1Easc/Sco2^tm2.1Easc mice

• reduced complex III activities in all tissues from the mutant mice