Phenotypes associated with this allele

• Allele Symbol: Ndufs4^tm1Capt
• Allele Name: targeted mutation 1, Carl A Pinkert
• Allele ID: MGI:5464892
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Ndufs4^tm1Capt/Ndufs4^+	involves: 129S6/SvEvTac * C57BL/6NTac	MGI:5464901

Genotype
MGI:5464901

ht1

• 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		J:192154