Phenotypes Associated with This Genotype

Genotype
MGI:5910334

• Allelic Composition: Tg(Myh6-LDB3*S196L)93Mva/0
• Genetic Background: involves: C57BL/6J

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

cardiovascular system

cardiac fibrosis ( J:243711 )

• mild focal fibrosis in ventricular myocardium at 10 months of age

dilated heart ( J:243711 )

• mice develop cardiac dilation at 10 months of age, but not at 4 and 7 months

decreased cardiac muscle contractility ( J:243711 )

• mice develop decreased fractional shortening and ejection fraction at 10 months of age

abnormal heart echocardiography feature ( J:243711 )

• mice exhibit left ventricular end-diastolic dilation and decreased left ventricular systolic function

decreased heart rate ( J:243711 )

• mice exhibit slower heart rate at 4 months of age

atrioventricular block ( J:243711 )

• appears as early as 4 months of age

prolonged PR interval ( J:243711 )

• prolonged PR intervals in 4 month old mice

prolonged QRS complex duration ( J:243711 )

• prolonged QRS intervals in 4 month old mice

abnormal myocardial fiber physiology ( J:243711 )

• percentage of sarcomere shortening is reduced in cardiomyocytes suggesting impaired contractile function

abnormal myocardial fiber calcium currents ( J:243711 )

• the peak L-type calcium current amplitude is reduced in cardiomyocytes, the threshold and peak voltage of the I-V relationship are rightward shifted leading to reduced calcium channel function

abnormal myocardial fiber sodium currents ( J:243711 )

• sodium currents are altered with cardiomyocytes showing a 10 mV rightward shift of the threshold and the peak voltage in the sodium channel I-V relationships

muscle

decreased cardiac muscle contractility ( J:243711 )

• mice develop decreased fractional shortening and ejection fraction at 10 months of age

abnormal sarcomere morphology ( J:243711 )

• severe sarcomere derangement in the myocardium of 10 month old mice

abnormal Z line morphology ( J:243711 )

• Z-band disorganization in the myocardium of 10 month old mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
dilated cardiomyopathy 1C		DOID:0110423	OMIM:601493	J:243711