Phenotypes Associated with This Genotype

Genotype
MGI:5907465

• Allelic Composition: Lpl^tm1Bres/Lpl⁺; Tg(Myh6-LPL*)357Ijg/0
• Genetic Background: involves: 129S4/SvJae

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

mortality/aging

premature death ( J:134550 )

• males begin to die after 20 weeks of age and all die by 60 weeks of age

• breeding females begin to die around 4 weeks of age and all die by 32 weeks of age

cardiovascular system

abnormal cardiac muscle tissue morphology ( J:134550 )

• disarrayed cardiomyocyte architecture with increased mitochondria

abnormal heart morphology ( J:134550 )

• increase in intracellular neutral lipid in hearts from 24-hour fasted mice

• 58.9% increase in cholesteryl ester and a 24.7% increase in free fatty acid in hearts

abnormal myocardial fiber morphology ( J:134550 )

• lipid accumulation within myocytes

enlarged heart ( J:134550 )

♂ • 4 month old males exhibit enlarged hearts

increased heart weight ( J:134550 )

♀ • females exhibit an increase in heart weight

dilated heart left ventricle ( J:134550 )

abnormal cardiovascular system physiology ( J:134550 )

• hearts exhibit 54% more VLDL-triglyceride uptake in the absence of heparin and 26% more uptake in the presence of heparin than controls

decreased heart left ventricle muscle contractility ( J:134550 )

• left ventricular systolic function is impaired

• however, no increase in ventricular wall thickness is seen

cardiomyopathy ( J:134550 )

homeostasis/metabolism

abnormal blood homeostasis ( J:134550 )

• heparinized mice exhibit faster clearance of VLDL from the plasma than single Lpl homozygotes

abnormal lipid level ( J:134550 )

• increase in intracellular neutral lipid in hearts from 24-hour fasted mice

increased fatty acids level ( J:134550 )

• 24.7% increase in free fatty acid in hearts

muscle

abnormal cardiac muscle tissue morphology ( J:134550 )

• disarrayed cardiomyocyte architecture with increased mitochondria

abnormal myocardial fiber morphology ( J:134550 )

• lipid accumulation within myocytes

decreased heart left ventricle muscle contractility ( J:134550 )

• left ventricular systolic function is impaired

• however, no increase in ventricular wall thickness is seen

cardiomyopathy ( J:134550 )

growth/size/body

enlarged heart ( J:134550 )

♂ • 4 month old males exhibit enlarged hearts

increased heart weight ( J:134550 )

♀ • females exhibit an increase in heart weight

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
cardiomyopathy		DOID:0050700		J:134550