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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Scn5atm1Agrc
targeted mutation 1, Andrew A Grace
MGI:2179753
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Scn5atm1Agrc/Scn5atm1Agrc involves: 129 * C57BL/6J MGI:3621904
ht2
Scn5atm1Agrc/Scn5a+ involves: 129 MGI:3641169
ht3
Scn5atm1Agrc/Scn5a+ involves: 129 * C57BL/6J MGI:3621905


Genotype
MGI:3621904
hm1
Allelic
Composition
Scn5atm1Agrc/Scn5atm1Agrc
Genetic
Background
involves: 129 * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Scn5atm1Agrc mutation (0 available); any Scn5a mutation (104 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Morphology of E10.5 control and Scn5atm1Agrc/Scn5atm1Agrc hearts

mortality/aging
• observe no heart contractions beyond E11.5 and see autolysis of embryos

cardiovascular system
• reduction in the number of thin, spindle-like cardiomyocytes
• reduction in chamber size, however, the endocardial cushions of the atrioventricular canal, the common atrial chamber, and the truncus arteriosus all appear normal
• reduction in trabeculation of the ventricular wall
• show uncoordinated contractions at E10.5

embryo
• smaller at E10.5

growth/size/body
• smaller at E10.5

muscle
• reduction in the number of thin, spindle-like cardiomyocytes
• reduction in trabeculation of the ventricular wall
• show uncoordinated contractions at E10.5




Genotype
MGI:3641169
ht2
Allelic
Composition
Scn5atm1Agrc/Scn5a+
Genetic
Background
involves: 129
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Scn5atm1Agrc mutation (0 available); any Scn5a mutation (104 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• 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
• show slight but significant bradycardia
• 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
• PR intervals progressively prolong with age (from 3 to 71 weeks)
• P-wave intervals progressively prolong with age (from 3 to 71 weeks)
• QRS intervals progressively prolong with age (from 3 to 71 weeks)
• QTrc and QTc intervals are prolonged due to prolongation of the QRS interval




Genotype
MGI:3621905
ht3
Allelic
Composition
Scn5atm1Agrc/Scn5a+
Genetic
Background
involves: 129 * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Scn5atm1Agrc mutation (0 available); any Scn5a mutation (104 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• after aortic cannulation and Langendorff-perfusion, whole isolated hearts show marked rate slowing
• display ventricular tachycardia during continuous pacing or after the delivery of S2 stimuli at shorter S1-S2 intervals
• 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, however QT interval is unchanged
• 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





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last database update
03/19/2024
MGI 6.23
The Jackson Laboratory