Phenotypes Associated with This Genotype

Genotype
MGI:5907162

• Allelic Composition: Tg(Myh6-NEBL*A592E)#Jato/0
• Genetic Background: Not Specified

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

cardiovascular system

abnormal cardiac muscle tissue morphology ( J:242962 )

• myocyte disarray

abnormal heart morphology ( J:242962 )

• hearts show mild accumulation of lipids and abnormalities of mitochondrial shape and size

• interstitial cell infiltration in the hearts

enlarged heart ( J:242962 )

• cardiac enlargement due to left ventricle dilation

dilated heart left ventricle ( J:242962 )

• dilation of the left ventricle as evidenced by increased left ventricle end-systolic dimensions without changes in left ventricle end-diastolic dimensions

dilated cardiomyopathy ( J:242962 )

decreased cardiac muscle contractility ( J:242962 )

• decrease in fractional shortening

behavior/neurological

impaired exercise endurance ( J:242962 )

• by 6 months of age, mice show a reduction in the tolerance against acute stress, indicated by decreased running distances compared to controls

homeostasis/metabolism

impaired exercise endurance ( J:242962 )

• by 6 months of age, mice show a reduction in the tolerance against acute stress, indicated by decreased running distances compared to controls

muscle

abnormal cardiac muscle tissue morphology ( J:242962 )

• myocyte disarray

dilated cardiomyopathy ( J:242962 )

decreased cardiac muscle contractility ( J:242962 )

• decrease in fractional shortening

abnormal Z line morphology ( J:242962 )

• proteins in the Z-disks of cardiomyocytes are downregulated and disrupted

growth/size/body

enlarged heart ( J:242962 )

• cardiac enlargement due to left ventricle dilation

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
dilated cardiomyopathy		DOID:12930	OMIM:PS115200	J:242962