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Phenotypes Associated with This Genotype
Genotype
MGI:5464901
Allelic
Composition
Ndufs4tm1Capt/Ndufs4+
Genetic
Background
involves: 129S6/SvEvTac * C57BL/6NTac
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ndufs4tm1Capt mutation (0 available); any Ndufs4 mutation (12 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular
• 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
• 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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
12/03/2019
MGI 6.14
The Jackson Laboratory