Phenotypes associated with this allele

• Allele Symbol: Ndufa1^tm1.1Nay
• Allele Name: targeted mutation 1.1, Nagendra Yadava
• Allele ID: MGI:6140203
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ndufa1^tm1.1Nay/Ndufa1^tm1.1Nay	involves: 129S1/SvImJ * 129S4/SvJaeSor * 129S6/SvEvTac	MGI:6187936
ot2	Ndufa1^tm1.1Nay/Y	involves: 129S1/SvImJ * 129S4/SvJaeSor * 129S6/SvEvTac	MGI:6187937

Genotype
MGI:6187936

hm1

• Allelic Composition: Ndufa1^tm1.1Nay/Ndufa1^tm1.1Nay
• Genetic Background: involves: 129S1/SvImJ * 129S4/SvJaeSor * 129S6/SvEvTac

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

mortality/aging

extended life span ( J:257477 )

♀ • increased survival in females, but not males

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
mitochondrial complex I deficiency		DOID:0060536	OMIM:252010	J:257477

Genotype
MGI:6187937

ot2

• Allelic Composition: Ndufa1^tm1.1Nay/Y
• Genetic Background: involves: 129S1/SvImJ * 129S4/SvJaeSor * 129S6/SvEvTac

behavior/neurological

decreased food intake ( J:257477 )

♂

decreased locomotor activity ( J:257477 )

♂

liver/biliary system

decreased liver cholesterol level ( J:257477 )

♂

homeostasis/metabolism

abnormal circulating amino acid level ( J:257477 )

♂ • decreased levels of aspargine in sera

decreased taurine level ( J:257477 )

♂ • decreased levels of taurine in liver

decreased circulating bilirubin level ( J:257477 )

♂

decreased circulating iron level ( J:257477 )

♂ • heme levels reduced in brain, liver and serum

decreased energy expenditure ( J:257477 )

♂ • males expend less energy during both phases of circadian cycle

decreased oxygen consumption ( J:257477 )

♂ • males consume less oxygen during both phases of circadian cycle

decreased respiratory quotient ( J:257477 )

♂ • RER is lowered in both light and dark phases of circadian cycle

abnormal glucose homeostasis ( J:257477 )

♂ • decreased levels of myo-inositol in liver

♂ • decrease levels of fucose in sera

abnormal corticosterone level ( J:257477 )

♂ • corticosterone levels are reduced in liver and sera

decreased circulating corticosterone level ( J:257477 )

♂

abnormal cholesterol homeostasis ( J:257477 )

♂ • decreased 7-beta hydroxycholesterol level in sera

decreased liver cholesterol level ( J:257477 )

♂

increased fatty acids level ( J:257477 )

♂ • increased levels of caprate and 3-hydroxydecanoate in liver

♂ • increased levels of 12,13-hydroxyoctadec-9(Z)-enoate in sera

abnormal sphingolipid level ( J:257477 )

♂ • decrease in palmitoyl sphingomyelin levels in sera

abnormal metabolism ( J:257477 )

♂ • hypometabolic

♂ • decreased levels of trigonelline, 4-methylcatechol sulfate in sera

abnormal amino acid metabolism ( J:257477 )

♂ • increased levels of gamma-glutamylthreonine and 2-aminobutyrate in liver

♂ • decreased levels of trans-4-hydroxyproline, pipecolate, and taurine in liver

♂ • increased carnitine metabolites in the brain

♂ • decreased levels of 3-dehydrocarnitine, 4-acetamidobutanoate, and indolepropionate in sera

decreased basal metabolism ( J:257477 )

♂ • reduced heat production

abnormal lipid metabolism ( J:257477 )

♂ • increase in multiple lysolipids in sera

♂ • decrease in phosphoethanolamine level in liver

♂ • decrease in choline levels in liver

abnormal nucleotide metabolism ( J:257477 )

♂ • decreased levels of 2'deoxyuridine, allantoin, and pseudouridine in sera

mortality/aging

premature death ( J:257477 )

♂

nervous system

Purkinje cell degeneration ( J:257477 )

♂ • Purkinje cell neuron degeneration is observed in 14 month old males, but not in 3 month old males