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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Scn5aem1Coop
endonuclease-mediated mutation 1, Thomas A Cooper
MGI:6415727
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Scn5aem1Coop/Scn5aem1Coop involves: C57BL/6NJ * FVB/NJ MGI:6415732
hm2
Scn5aem1Coop/Scn5aem1Coop involves: FVB/NJ MGI:6415728
ht3
Scn5aem1Coop/Scn5a+ involves: FVB/NJ MGI:6415731


Genotype
MGI:6415732
hm1
Allelic
Composition
Scn5aem1Coop/Scn5aem1Coop
Genetic
Background
involves: C57BL/6NJ * FVB/NJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Scn5aem1Coop mutation (0 available); any Scn5a mutation (105 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• mice show similar ECG phenotypes that are seen on a FVB/NJ background

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
sick sinus syndrome DOID:13884 OMIM:163800
OMIM:608567
J:279087




Genotype
MGI:6415728
hm2
Allelic
Composition
Scn5aem1Coop/Scn5aem1Coop
Genetic
Background
involves: FVB/NJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Scn5aem1Coop mutation (0 available); any Scn5a mutation (105 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• decrease in basal heart rate
• mice exhibit sinus bradycardia at programmed electrical stimulation baseline
• ventricular tachycardia is inducible in 1 of 5 mice
• intracardiac pacing shows that mice are susceptible to various inducible arrhythmias
• mice show arrhythmias at programmed electrical stimulation baseline, including atrioventricular block in 3 of 5 mice, and afterdepolarizations in 3 of 5 mice that are either present simultaneously or separately
• 2 of 5 mice show premature atrial complexes at programmed electrical stimulation baseline
• optical mapping shows delays in activation and propagation of conduction, prolonged action potential duration and decreased ventricular conduction velocity
• however, mice show no differences in ejection fraction, fractional shortening, or morphological differences, indicating that contractility is not affected
• pacing in hearts shows atrioventricular block in 3 of 5 mice
• intracardiac pacing indicates delays in sinoatrial node function, prolonged atrioventricular effective refractory period, and various inducible arrhythmias
• mice exhibit sinus bradycardia at programmed electrical stimulation baseline, with 4 of 5 mice showing either premature atrial complexes, sinus pause, or spontaneous reversion from bradycardia
• variability in corrected QT interval
• in vivo intracardiac pacing on anesthetized mutants shows delays in sinoatrial node function and prolonged atrioventricular effective refractory period




Genotype
MGI:6415731
ht3
Allelic
Composition
Scn5aem1Coop/Scn5a+
Genetic
Background
involves: FVB/NJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Scn5aem1Coop mutation (0 available); any Scn5a mutation (105 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• intracardiac pacing shows that mice are susceptible to inducible arrhythmias
• optical mapping shows delays in activation and propagation of conduction, a trend of prolonged action potential duration, and decreased ventricular conduction velocity
• however, mice show no differences in ejection fraction, fractional shortening, or morphological differences, indicating that contractility is not affected
• pacing in hearts shows atrioventricular block
• variability in corrected QT interval
• in vivo intracardiac pacing on anesthetized mutants shows prolonged atrioventricular effective refractory period

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
sick sinus syndrome DOID:13884 OMIM:163800
OMIM:608567
J:279087





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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
10/09/2024
MGI 6.24
The Jackson Laboratory