Phenotypes associated with this allele

• Allele Symbol: Scn5a^tm1Pec
• Allele Name: targeted mutation 1, Peter Carmeliet
• Allele ID: MGI:2388158
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Scn5a^tm1Pec/Scn5a^tm1Pec	involves: Swiss	MGI:3621907
ht2	Scn5a^tm1Pec/Scn5a^+	involves: Swiss	MGI:3622652

Genotype
MGI:3621907

hm1

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

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:71542 )

• die at E10.5 of cardiac failure

cardiovascular system

abnormal cardiovascular system physiology ( J:71542 )

• cardiac failure

Genotype
MGI:3622652

ht2

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

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