Phenotypes Associated with This Genotype

Genotype
MGI:5758892

• Allelic Composition: Sco1^{tm1c(KOMP)Wtsi}/Sco1^{tm1c(KOMP)Wtsi}; Speer6-ps1^{Tg(Alb-cre)21Mgn}/Speer6-ps1⁺
• Genetic Background: involves: C57BL/6 * C57BL/6N * DBA

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

mortality/aging

premature death ( J:222036 )

• median life expectancy is 70 days

liver/biliary system

abnormal liver morphology ( J:222036 )

• from P37 onward, livers exhibit changes in quality and consistency of their color (spotty) compared with control mice

decreased liver copper level ( J:222036 )

• as early as P18, worsening with time

increased liver iron level ( J:222036 )

• without necrosis in Kupffer cells at P57

• however, total labile mitochondrial copper pool in the liver or other tissues (heart and brain) is normal

increased liver cholesterol level ( J:222036 )

increased liver triglyceride level ( J:222036 )

hepatic steatosis ( J:222036 )

• from P37 onward

homeostasis/metabolism

increased spleen iron level ( J:222036 )

• in reticuloendothelial cells of the spleen at P57

decreased kidney copper level ( J:222036 )

• modest

decreased liver copper level ( J:222036 )

• as early as P18, worsening with time

increased liver iron level ( J:222036 )

• without necrosis in Kupffer cells at P57

• however, total labile mitochondrial copper pool in the liver or other tissues (heart and brain) is normal

increased liver cholesterol level ( J:222036 )

increased liver triglyceride level ( J:222036 )

hematopoietic system

hematopoietic system phenotype ( J:222036 )

N • red blood cells numbers and properties are normal

decreased leukocyte cell number ( J:222036 )

increased spleen iron level ( J:222036 )

• in reticuloendothelial cells of the spleen at P57

spleen atrophy ( J:222036 )

decreased spleen white pulp amount ( J:222036 )

growth/size/body

decreased body size ( J:222036 )

• after 28 days

weight loss ( J:222036 )

• after 28 days

cellular

increased mitochondrial number ( J:222036 )

• in the liver

abnormal mitochondrial physiology ( J:222036 )

• increased mitochondrial proliferation in the liver

immune system

decreased leukocyte cell number ( J:222036 )

increased spleen iron level ( J:222036 )

• in reticuloendothelial cells of the spleen at P57

spleen atrophy ( J:222036 )

decreased spleen white pulp amount ( J:222036 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
cytochrome-c oxidase deficiency disease		DOID:3762	OMIM:PS220110	J:222036