Phenotypes Associated with This Genotype

Genotype
MGI:3641169

• Allelic Composition: Scn5a^tm1Agrc/Scn5a⁺
• Genetic Background: involves: 129

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

cardiovascular system

cardiac fibrosis ( J:109689 )

• old but not young mutants show extensive fibrosis of the ventricular myocardium (in the left and right ventricular free walls and in the interventricular septum)

• although young mutants do not exhibit ventricular fibrosis, they do show increased perivascular fibrosis which becomes massive with age

decreased heart rate ( J:109689 )

• show slight but significant bradycardia

ventricular tachycardia ( J:166438 )

• mutants exhibit a higher incidence of ventricular tachycardia than wild-type (25% vs. 6%)

• ventricular tachycardias begin at earlier times in the right ventricular outflow tract than at the base of the left ventricle

• mutant hearts exhibit abnormal electrophysiological properties of the right ventricle at the right ventricle outflow tract, showing increased heterogeneities in action potential duration, ventricular effective refractory periods, electrogram duration ratios and response latencies that correlate with an increased incidence of discordant alternans and with steeper restitution slopes

abnormal impulse conducting system conduction ( J:109689 )

prolonged PR interval ( J:109689 )

• PR intervals progressively prolong with age (from 3 to 71 weeks)

prolonged P wave ( J:109689 )

• P-wave intervals progressively prolong with age (from 3 to 71 weeks)

prolonged QRS complex duration ( J:109689 )

• QRS intervals progressively prolong with age (from 3 to 71 weeks)

prolonged QT interval ( J:109689 )

• QTrc and QTc intervals are prolonged due to prolongation of the QRS interval

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Brugada syndrome 1		DOID:0110218	OMIM:601144	J:166438
progressive familial heart block type IA		DOID:0111074	OMIM:113900	J:109689