Phenotypes Associated with This Genotype

Genotype
MGI:3622305

• Allelic Composition: Tg(Myh6-Tmod1)65Msus/Tg(Myh6-Tmod1)65Msus
• Genetic Background: FVB/N-Tg(Myh6-Tmod1)65Msus

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

mortality/aging

lethality at weaning, incomplete penetrance ( J:58879 )

• first wave of increased mortality occurs around 15-16 days after birth and the second wave at around 21 days of age, with about 50% dying between 14 and 22 days

premature death ( J:58879 )

• 58% die within 6 weeks after birth, although some mutants can live over 1 year

• a third wave of mortality occurs between 30 and 50 days

postnatal lethality, incomplete penetrance ( J:58879 )

• first wave of increased mortality occurs around 15-16 days after birth and the second wave at around 21 days of age, with about 50% dying between 14 and 22 days

• small litters show the highest mortality rates

cardiovascular system

abnormal myocardial fiber morphology ( J:58879 )

• 89% increase in intracellular calcium in cardiomyocytes

• amplitude of the calcium transient is 128% greater than in controls, raising peak systolic calcium level 2-fold above controls

• degenerative changes in sarcomere organization are apparent at birth and by 8 days after birth, show signs of sarcomeric dysgenesis such as poor alignment and wavy appearance

• although Z-disks are present at birth, structures are often poorly spaced or unaligned

increased heart weight ( J:58879 )

• disproportionate increases in heart weight occur around 1.5 weeks after birth, with most of the cardiac enlargement occurring in a very short time of 2-3 days

dilated heart left ventricle ( J:58879 )

• left ventricular chamber increases in size over time (from P11 to P14), however ventricular wall and spetal thickness remain normal at P8, P11 and P14

dilated cardiomyopathy ( J:58879 )

homeostasis/metabolism

anasarca ( J:58879 )

• mortality occurring between 30 and 50 days is associated with the development of anasarca

muscle

abnormal myocardial fiber morphology ( J:58879 )

• 89% increase in intracellular calcium in cardiomyocytes

• amplitude of the calcium transient is 128% greater than in controls, raising peak systolic calcium level 2-fold above controls

• degenerative changes in sarcomere organization are apparent at birth and by 8 days after birth, show signs of sarcomeric dysgenesis such as poor alignment and wavy appearance

• although Z-disks are present at birth, structures are often poorly spaced or unaligned

dilated cardiomyopathy ( J:58879 )

growth/size/body

increased heart weight ( J:58879 )

• disproportionate increases in heart weight occur around 1.5 weeks after birth, with most of the cardiac enlargement occurring in a very short time of 2-3 days

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
dilated cardiomyopathy		DOID:12930	OMIM:PS115200	J:58879