Phenotypes associated with this allele

• Allele Symbol: Tg(Myh6-TNNI3*G203S)1Chs
• Allele Name: transgene insertion 1, Christopher Semsarian
• Allele ID: MGI:3690009
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cx1	Myh6^tm1Jse/Myh6^+ Tg(Myh6-TNNI3*G203S)1Chs/0	involves: 129X1/SvJ * C57BL/6	MGI:5907166
tg2	Tg(Myh6-TNNI3*G203S)1Chs/0	Not Specified	MGI:3690017

Genotype
MGI:5907166

cx1

• 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 )

• myocyte atrophy and fragmentation, degeneration and loss of myocyte structure, collagen accumulation, greater infiltration of other cells, and enlarged extracellular spaces

abnormal myocardial fiber mitochondrial morphology ( J:153302 )

• altered distribution of mitochondria between myofibrils

abnormal myocardial fiber myofibril morphology ( J:153302 )

• altered alignment of myofibrils and myofibril disarray and discontinuity

disorganized myocardial fiber myofibrils ( J:153302 )

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 )

• myocyte atrophy and fragmentation, degeneration and loss of myocyte structure, collagen accumulation, greater infiltration of other cells, and enlarged extracellular spaces

abnormal myocardial fiber mitochondrial morphology ( J:153302 )

• altered distribution of mitochondria between myofibrils

abnormal myocardial fiber myofibril morphology ( J:153302 )

• altered alignment of myofibrils and myofibril disarray and discontinuity

disorganized myocardial fiber myofibrils ( J:153302 )

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

abnormal myocardial fiber mitochondrial morphology ( J:153302 )

• altered distribution of mitochondria between myofibrils

abnormal myocardial fiber myofibril morphology ( J:153302 )

• altered alignment of myofibrils and myofibril disarray and discontinuity

disorganized myocardial fiber myofibrils ( J:153302 )

cardiac interstitial fibrosis ( J:153302 )

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

Genotype
MGI:3690017

tg2

• Allelic Composition: Tg(Myh6-TNNI3*G203S)1Chs/0
• Genetic Background: Not Specified

cardiovascular system

myocardial fiber disarray ( J:114537 )

• exhibit myofiber disarray in hearts

cardiac hypertrophy ( J:114537 )

• markers of hypertrophy are elevated

heart left ventricle hypertrophy ( J:114537 )

cardiac interstitial fibrosis ( J:114537 )

abnormal impulse conducting system conduction ( J:114537 )

prolonged PR interval ( J:114537 )

• exhibit prolongation of the PR interval by 30 weeks of age, consistent with first-degree atrioventricular block

abnormal QRS complex ( J:114537 )

• exhibit decreased QRS and QRS-H

abnormal myocardial fiber physiology ( J:114537 )

• cardiomyocytes exhibit abnormal calcium cycling with a prolonged decay constant in calcium transients and a reduced decay constant in response to caffeine treatment, however show normal sarcoplasmic reticulum calcium release and storage

cardiomyopathy ( J:114537 )

• develop hallmarks of familial hypertrophic cardiomyopathy by 50 weeks of age

muscle

myocardial fiber disarray ( J:114537 )

• exhibit myofiber disarray in hearts

heart left ventricle hypertrophy ( J:114537 )

cardiomyopathy ( J:114537 )

• develop hallmarks of familial hypertrophic cardiomyopathy by 50 weeks of age

growth/size/body

cardiac hypertrophy ( J:114537 )

• markers of hypertrophy are elevated

heart left ventricle hypertrophy ( J:114537 )

cellular

cardiac interstitial fibrosis ( J:114537 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hypertrophic cardiomyopathy 7		DOID:0110313	OMIM:613690	J:114537