Phenotypes Associated with This Genotype

Genotype
MGI:3621905

• Allelic Composition: Scn5a^tm1Agrc/Scn5a⁺
• Genetic Background: involves: 129 * C57BL/6J

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

cardiovascular system

abnormal heart rate ( J:76331 )

• after aortic cannulation and Langendorff-perfusion, whole isolated hearts show marked rate slowing

ventricular tachycardia ( J:76331 )

• display ventricular tachycardia during continuous pacing or after the delivery of S2 stimuli at shorter S1-S2 intervals

abnormal impulse conducting system conduction ( J:76331 )

• exhibit a 50% reduction in sodium conduction, leading to impaired action potential propagation and atrioventricular conduction, delayed intramyocardial conduction, increased ventricular refractoriness, and ventricular tachycardia with characteristics of reentrant excitation

prolonged PR interval ( J:76331 )

• prolonged PR interval, however QT interval is unchanged

prolonged P wave ( J:76331 )

abnormal myocardial fiber physiology ( J:76331 )

• peak current densities of myocytes are reduced, indicating reduced sodium channel density

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
progressive familial heart block type IA		DOID:0111074	OMIM:113900	J:76331