Phenotypes Associated with This Genotype

Genotype
MGI:5319509

• Allelic Composition: Tg(Myh6-MYPN*Y20C)#Jato/0
• Genetic Background: involves: C57BL/6J

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

cardiovascular system

abnormal myocardial fiber morphology ( J:181871 )

• mutants exhibit hypertrophied cardiomyocytes, however no fibrosis is seen

abnormal intercalated disk morphology ( J:181871 )

• mutants exhibit severe disruption of intercalated discs, including disappearance of terminal Z-discs adjacent to the intercalated discs and apparent pulling apart the cell-cell contacts

• however, there are no changes in sarcomeric Z-discs, mitochondria or other cardiomyocyte components

increased myocardial fiber size ( J:181871 )

• mutants exhibit an increase in surface area of cardiomyocytes

thick interventricular septum ( J:181871 )

enlarged heart ( J:181871 )

• by 6 months of age, mutants develop significant cardiac enlargement

cardiac hypertrophy ( J:181871 )

• by 6 months of age, mutants exhibit severe concentric hypertrophy

dilated heart ventricle ( J:181871 )

• by 6 months of age, mutants exhibit dilation of both the left and right ventricles

decreased cardiac muscle contractility ( J:181871 )

• mutants exhibit reduced percentage ejection fraction compared to controls indicating systolic dysfunction

decreased heart left ventricle muscle contractility ( J:181871 )

• mutants exhibit an increase in left ventricle end-systolic volume

muscle

abnormal myocardial fiber morphology ( J:181871 )

• mutants exhibit hypertrophied cardiomyocytes, however no fibrosis is seen

abnormal intercalated disk morphology ( J:181871 )

• mutants exhibit severe disruption of intercalated discs, including disappearance of terminal Z-discs adjacent to the intercalated discs and apparent pulling apart the cell-cell contacts

• however, there are no changes in sarcomeric Z-discs, mitochondria or other cardiomyocyte components

increased myocardial fiber size ( J:181871 )

• mutants exhibit an increase in surface area of cardiomyocytes

decreased cardiac muscle contractility ( J:181871 )

• mutants exhibit reduced percentage ejection fraction compared to controls indicating systolic dysfunction

decreased heart left ventricle muscle contractility ( J:181871 )

• mutants exhibit an increase in left ventricle end-systolic volume

growth/size/body

enlarged heart ( J:181871 )

• by 6 months of age, mutants develop significant cardiac enlargement

cardiac hypertrophy ( J:181871 )

• by 6 months of age, mutants exhibit severe concentric hypertrophy

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hypertrophic cardiomyopathy		DOID:11984		J:181871