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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Ndufs4tm1Capt
targeted mutation 1, Carl A Pinkert
MGI:5464892
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
ht1
 		Ndufs4tm1Capt/Ndufs4+ involves: 129S6/SvEvTac * C57BL/6NTac MGI:5464901


Genotype
MGI:5464901
ht1
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 (27 available)
♀ 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




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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Send questions and comments to User Support. 		last database update
04/23/2024
MGI 6.23 		The Jackson Laboratory