Phenotypes Associated with This Genotype

Genotype
MGI:3718111

• Allelic Composition: Myh6^tm1Jse/Myh6⁺
• Genetic Background: 129S.129X1-Myh6^tm1Jse

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

Myocyte disarray and cardiac fibrosis in Myh6^tm1Jse/Myh6⁺ mice

cardiovascular system

myocardial fiber disarray ( J:104363 )

• myocyte disarray is seen in 29% of young and 40% of adult mutants, usually in the left ventricular wall or interventricular septum

cardiac hypertrophy ( J:104363 )

• develop cardiac hypertrophy with increasing age such that by 20-30 weeks of age, hypertrophy is uniformly present

abnormal heart left ventricle morphology ( J:104363 )

• mutants with inducible arrhythmias have greater left ventricular wall thickness and greater hypercontractility than mutants without inducible arrythmias, however observe no correlation between wall thickness and amount of fibrosis or myocyte disarray

cardiac fibrosis ( J:104363 )

• develop difusse and focal cardiac fibrosis with increasing age; total amount of fibrosis within each heart varies broadly

abnormal cardiovascular system physiology ( J:104363 )

increased cardiac muscle contractility ( J:104363 )

• end-diastolic left ventricle dimensions are smaller and fractional shortening is increased

• mutants with inducible arrhythmias have greater hypercontractility than mutants without inducible arrythmias

irregular heartbeat ( J:104363 )

• ventricular tachyarrhythmia is induced in 25% of young and 69% of adults by rapid ventricular pacing at a cycle length of more than or equal to 50 ms; no arrhythmias are induced in wild-type

growth/size/body

cardiac hypertrophy ( J:104363 )

• develop cardiac hypertrophy with increasing age such that by 20-30 weeks of age, hypertrophy is uniformly present

muscle

myocardial fiber disarray ( J:104363 )

• myocyte disarray is seen in 29% of young and 40% of adult mutants, usually in the left ventricular wall or interventricular septum

increased cardiac muscle contractility ( J:104363 )

• end-diastolic left ventricle dimensions are smaller and fractional shortening is increased

• mutants with inducible arrhythmias have greater hypercontractility than mutants without inducible arrythmias

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hypertrophic cardiomyopathy 14		DOID:0110320	OMIM:613251	J:104363