Phenotypes Associated with This Genotype

Genotype
MGI:5907166

• Allelic Composition: Myh6^tm1Jse/Myh6⁺; Tg(Myh6-TNNI3*G203S)1Chs/0
• Genetic Background: involves: 129X1/SvJ * C57BL/6

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

mortality/aging

postnatal lethality, complete penetrance ( J:153302 )

• 100% mortality by 21 days of age, with survival declining rapidly from 16 days of age

• mean life span of males is 16.8 days, while the mean life span of females is 18.3 days

cardiovascular system

liver vascular congestion ( J:153302 )

pulmonary vascular congestion ( J:153302 )

abnormal cardiac muscle tissue morphology ( J:153302 )

• abnormal myofiber alignment

abnormal myocardial fiber morphology ( J:153302 )

• altered alignment of myofibrils, myocyte atrophy and fragmentation, altered distribution of mitochondria between myofibrils, myofibril disarray and discontinuity, degeneration and loss of myocyte structure, collagen accumulation, greater infiltration of other cells, and enlarged extracellular spaces

increased myocardial fiber size ( J:153302 )

• cardiomyocyte hypertrophy

myocardial fiber degeneration ( J:153302 )

• degeneration and loss of cardiac myocyte structure

cardiac muscle necrosis ( J:153302 )

• areas of necrosis in left ventricular myocardium

increased heart weight ( J:153302 )

• increase in heart weight to body weight ratio at 14 and 16 days of age

cardiac interstitial fibrosis ( J:153302 )

dilated heart ( J:153302 )

• 4-chamber cardiac enlargement at 14 days of age

dilated heart atrium ( J:153302 )

• biatrial dilatation

dilated cardiomyopathy ( J:153302 )

• mice develop severe dilated cardiomyopathy, with enlargement of left ventricular cardiac chambers and a reduction in fractional shortening

decreased cardiac muscle contractility ( J:153302 )

• reduction in cardiac function at 16 to 18 days of age, with decreased fractional shortening which is reduced to below 20% in some mice

abnormal heart echocardiography feature ( J:153302 )

• increase in left ventricular end-diastolic and end-systolic diameter

prolonged RR interval ( J:153302 )

• at 14 days of age

irregular heartbeat ( J:153302 )

• adrenaline administration induces ventricular arrhythmias in some mice

atrioventricular block ( J:153302 )

• first degree atrioventricular block

prolonged PR interval ( J:153302 )

• at 14 days of age

abnormal P wave ( J:153302 )

• increase in P-wave height

prolonged QT interval ( J:153302 )

• the corrected QT interval is increased

congestive heart failure ( J:153302 )

immune system

liver inflammation ( J:153302 )

lung inflammation ( J:153302 )

liver/biliary system

liver vascular congestion ( J:153302 )

liver inflammation ( J:153302 )

homeostasis/metabolism

abnormal atrial thrombosis ( J:153302 )

• premorbid left atrial thrombus is seen in a subgroup of hearts

muscle

abnormal cardiac muscle tissue morphology ( J:153302 )

• abnormal myofiber alignment

abnormal myocardial fiber morphology ( J:153302 )

• altered alignment of myofibrils, myocyte atrophy and fragmentation, altered distribution of mitochondria between myofibrils, myofibril disarray and discontinuity, degeneration and loss of myocyte structure, collagen accumulation, greater infiltration of other cells, and enlarged extracellular spaces

increased myocardial fiber size ( J:153302 )

• cardiomyocyte hypertrophy

myocardial fiber degeneration ( J:153302 )

• degeneration and loss of cardiac myocyte structure

cardiac muscle necrosis ( J:153302 )

• areas of necrosis in left ventricular myocardium

dilated cardiomyopathy ( J:153302 )

• mice develop severe dilated cardiomyopathy, with enlargement of left ventricular cardiac chambers and a reduction in fractional shortening

decreased cardiac muscle contractility ( J:153302 )

• reduction in cardiac function at 16 to 18 days of age, with decreased fractional shortening which is reduced to below 20% in some mice

respiratory system

pulmonary vascular congestion ( J:153302 )

increased lung weight ( J:153302 )

• ratio of lung weight to body weight is increased

lung inflammation ( J:153302 )

growth/size/body

increased heart weight ( J:153302 )

• increase in heart weight to body weight ratio at 14 and 16 days of age

increased lung weight ( J:153302 )

• ratio of lung weight to body weight is increased

cellular

cardiac interstitial fibrosis ( J:153302 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hypertrophic cardiomyopathy		DOID:11984		J:153302