Phenotypes Associated with This Genotype

Genotype
MGI:5582068

• Allelic Composition: Scn5a^tm1Clhh/Scn5a⁺
• Genetic Background: involves: 129/SvEv

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

cardiovascular system

sinus bradycardia ( J:186583 )

• 6 of 10 mice under ketamine anesthesia show sinus bradycardia after pacing

abnormal impulse conducting system conduction ( J:186583 )

• electrocardiographic waveforms suggest depressed intra-atrial, atrioventricular node, and intraventricular conduction in the absence of sinoatrial exit block

• sinatrial preparations show depressed sinus rate, greater excitation latencies and slowed conduction velocities for the spread of excitation between the sinoatrial node and atrial septum

abnormal atrioventricular node conduction ( J:186583 )

• electrocardiographic waveforms suggest slow atrioventricular node conduction

atrioventricular block ( J:186583 )

• 4 of 10 mice under ketamine anesthesia show II to III atrioventricular block

prolonged PR interval ( J:186583 )

• mice under avertin anesthesia show longer PR intervals

prolonged QRS complex duration ( J:186583 )

• mice under avertin anesthesia show longer QRS durations

prolonged QT interval ( J:186583 )

• mice under avertin anesthesia show abnormal ventricular repolarization, seen as increased QT and corrected QT intervals (after correction for RR intervals) compared with wild-type mice

abnormal sinoatrial node conduction ( J:186583 )

• mice under ketamine or avertin anesthesia exhibit greater sinus node recovery times after a burst pacing protocol over a 30-second stimulation period, indicating depressed sinoatrial node pacemaker function

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
long QT syndrome 3		DOID:0110646	OMIM:603830	J:186583