Phenotypes Associated with This Genotype

Genotype
MGI:5909973

• Allelic Composition: Tg(Myh6/tetO-Mybpc3*)#Rbns/0; Tg(Myh6-tTA)55Rbns/0
• Genetic Background: involves: FVB/N

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

mortality/aging

premature death ( J:213370 )

• mice being to die as early as 23 days after birth, with the majority of mice deceased by 8 weeks

• mice treated with the MEK inhibitor U0126 show increases in lifespan and survival

cardiovascular system

abnormal heart morphology ( J:213370 )

• aberrant cardiac morphology is seen at 12 weeks, with perturbed chamber arrangement and overall geometry

increased heart atrium size ( J:213370 )

• atrial enlargement at 12 weeks

increased heart weight ( J:213370 )

• ratio of heart weight-to-body weight is increased

abnormal heart left ventricle morphology ( J:213370 )

• increase in left ventricular mass

• mice treated with U0126 show improved left ventricular mass and diastolic volumes

increased heart ventricle size ( J:213370 )

• ventricular enlargement at 12 weeks

cardiac fibrosis ( J:213370 )

• cardiac fibrosis is seen as early as 4 weeks and progressively increases with age

abnormal cardiovascular system physiology ( J:213370 )

• mice begin showing overt signs of cardiac dysfunction in early adulthood

decreased cardiac muscle contractility ( J:213370 )

• fractional shortening is decreased after 12 weeks of age

• mice treated with the MEK inhibitor U0126 show improved fractional shortening

congestive heart failure ( J:213370 )

• mice exhibit obvious signs of heart failure, including anasarca, fluid retention, and listlessness

muscle

decreased cardiac muscle contractility ( J:213370 )

• fractional shortening is decreased after 12 weeks of age

• mice treated with the MEK inhibitor U0126 show improved fractional shortening

abnormal muscle fiber morphology ( J:213370 )

• overall architecture of the mitochondria is severely disrupted in hearts

abnormal sarcomere morphology ( J:213370 )

• sarcomeres are out of register and normal pattern organization is disrupted in hearts

growth/size/body

increased heart weight ( J:213370 )

• ratio of heart weight-to-body weight is increased

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hypertrophic cardiomyopathy 4		DOID:0110310	OMIM:115197	J:213370