Phenotypes associated with this allele

• Allele Symbol: Sucla2⁺
• Allele Name: wild type
• Allele ID: MGI:2436784
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Sucla2^Gt(SAbetageo)1Bhg/Sucla2^+	involves: 129S6/SvEvTac * C57BL/6	MGI:5585621
ht2	Sucla2^Gt(IST10208H1)Tigm/Sucla2^+	involves: 129S/SvEv * C57BL/6N	MGI:6153993
cx3	Sucla2^Gt(IST10208H1)Tigm/Sucla2^+ Suclg2^Gt(Ayu21-KBW131)Imeg/Suclg2^+	involves: 129S/SvEv * C57BL/6 * C57BL/6N	MGI:6153997

Genotype
MGI:5585621

ht1

• Allelic Composition: Sucla2^{Gt(SAbetageo)1Bhg}/Sucla2⁺
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6

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

cellular

increased mitochondrial DNA content ( J:213453 )

• increased mitochondrial DNA in mouse embryonic fibroblasts during the first week of culture

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
mitochondrial DNA depletion syndrome 5		DOID:0080124	OMIM:612073	J:213453

Genotype
MGI:6153993

ht2

• Allelic Composition: Sucla2^{Gt(IST10208H1)Tigm}/Sucla2⁺
• Genetic Background: involves: 129S/SvEv * C57BL/6N

cellular

cellular phenotype ( J:241325 )

N • most state 2 and 3 respiration in mitochondria from liver, heart and brain of 3-, 6- and 12-months old mice

N • complex I, II, II/III and IV electron transport chain activities, relative to citrate synthase activity, in mitochondria from liver, heart and brain of 3-, 6- and 12-months old mice

N • mitochondrial DNA content in liver, heart and brain of 6- and 12-months old mice

decreased mitochondrial DNA content ( J:241325 )

• in mitochondria from liver, heart and brain of 3-months old mice

decreased myocardial fiber mitochondrial DNA content ( J:241325 )

decreased hepatocyte mitochondrial DNA content ( J:241325 )

abnormal mitochondrial physiology ( J:241325 )

• some reduced state 3 respiration in mitochondria from heart of 6-months old, and state 2 and state 3 respiration in mitochondria from heart of 12-months old, and state 3 respiration in mitochondria from liver of 3- and 12-months old mice

abnormal oxidative phosphorylation ( J:241325 )

• significant decrease in ATP-generating activity in mitochondria from liver, heart and brain of 3-, 6- and 12-months old mice

• significant increase in GTP-generating activity in mitochondria from heart of 3-, 6- and 12-months old mice

homeostasis/metabolism

increased circulating carnitine level ( J:241325 )

• increased levels of short- and long-chain carnitine esters in blood

cardiovascular system

decreased myocardial fiber mitochondrial DNA content ( J:241325 )

liver/biliary system

decreased hepatocyte mitochondrial DNA content ( J:241325 )

muscle

decreased myocardial fiber mitochondrial DNA content ( J:241325 )

Genotype
MGI:6153997

cx3

• Allelic Composition: Sucla2^{Gt(IST10208H1)Tigm}/Sucla2⁺; Suclg2^{Gt(Ayu21-KBW131)Imeg}/Suclg2⁺
• Genetic Background: involves: 129S/SvEv * C57BL/6 * C57BL/6N

cellular

decreased mitochondrial DNA content ( J:241325 )

• in mitochondria from liver and brain of 12-months old mice

decreased hepatocyte mitochondrial DNA content ( J:241325 )

abnormal oxidative phosphorylation ( J:241325 )

• significant decrease in ATP-generating activity in mitochondria from heart and brain of 12-months old mice

• significant increase in succinate dehydrogenase (electron transport chain) activity in mitochondria from heart of 12-months old mice

• ATP-generating activity in mitochondria from liver of 12-months old mice

• GTP-generating activity in mitochondria from liver, heart and brain of 12-months old mice

liver/biliary system

decreased hepatocyte mitochondrial DNA content ( J:241325 )

homeostasis/metabolism

increased circulating carnitine level ( J:241325 )

• increased levels of some carnitine esters in blood