Phenotypes Associated with This Genotype

Genotype
MGI:3622652

• Allelic Composition: Scn5a^tm1Pec/Scn5a⁺
• Genetic Background: involves: Swiss

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

mortality/aging

premature death ( J:71542 )

• 6 of 275 suddenly died around 3-6 months of age, presumably because of fatal arrhythmias

cardiovascular system

decreased heart rate ( J:71542 )

• resting heart rate is lower

irregular heartbeat ( J:71542 )

• some spontaneously develop polymorphous ventricular arrhythmias

abnormal impulse conducting system conduction ( J:71542 )

• sudden accelerations in heart rate or premature beats cause lengthening of the action potential with early afterdepolarization and trigger arrhythmias

• increase in peak and late sodium current in cardiomyoctes

• ECG recordings show abnormal and variable myocardial propagation of the electrical pulse

prolonged QT interval ( J:71542 )

• QT interval is prolonged by 55%

abnormal T wave ( J:71542 )

• T-wave is more prominent than in wild-type

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
long QT syndrome 3		DOID:0110646	OMIM:603830	J:71542