Phenotypes Associated with This Genotype

Genotype
MGI:7378415

• Allelic Composition: Acad9^{tm1c(KOMP)Wtsi}/Acad9^{tm1c(KOMP)Wtsi}; Tg(Myh6-cre)2182Mds/0
• Genetic Background: involves: C57BL/6N * FVB/N

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

mortality/aging

postnatal lethality ( J:326969 )

• mice begin to die shortly after P14, with the earliest death at P13 and die by P17

cardiovascular system

abnormal heart morphology ( J:326969 )

• the respiratory chain supercomplexes and isolated complex I are absent in hearts

myocardial fiber disarray ( J:326969 )

thick ventricular wall ( J:326969 )

decreased cardiac muscle contractility ( J:326969 )

• ejection fraction is reduced by as much as 27-fold and is already reduced at P3

cardiomyopathy ( J:326969 )

• mice exhibit dramatic cardiomyopathy with thickening of the atrial and ventricular walls and severe enlargement of all chambers

• cardiomyopathy is already seen at P3

cellular

abnormal mitochondrial physiology ( J:326969 )

• mitochondria do not respond to substrates that drive complex I (malate, pyruvate, and glutamate) but have a normal response to the complex II substrate succinate

• mitochondria also show no response to injection of rotenone which leads to loss of respiration in wild-type mitochondria

muscle

myocardial fiber disarray ( J:326969 )

decreased cardiac muscle contractility ( J:326969 )

• ejection fraction is reduced by as much as 27-fold and is already reduced at P3

cardiomyopathy ( J:326969 )

• mice exhibit dramatic cardiomyopathy with thickening of the atrial and ventricular walls and severe enlargement of all chambers

• cardiomyopathy is already seen at P3

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
nuclear type mitochondrial complex I deficiency 20		DOID:0112072	OMIM:611126	J:326969