Phenotypes Associated with This Genotype

Genotype
MGI:5464901

• Allelic Composition: Ndufs4^tm1Capt/Ndufs4⁺
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6NTac

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

cellular

abnormal respiratory electron transport chain ( J:192154 )

• mitochondria in the heart, brain and skeletal muscle exhibit reduced oxygen consumption and decreased complex I activity but increased citrate synthase activity compared to in wild-type cells

• however, complex II activity is normal

homeostasis/metabolism

abnormal enzyme/coenzyme activity ( J:192154 )

• lactate dehydrogenase activity in the brain and heart is increased 2- to 3-fold with corresponding increase in lactate concentration compared to in wild-type cells

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
mitochondrial complex I deficiency		DOID:0060536	OMIM:252010	J:192154