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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Scn5atm1Clhh
targeted mutation 1, Christopher LH Huang
MGI:3765977
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Scn5atm1Clhh/Scn5atm1Clhh involves: 129 * 129S/SvEv * C57BL/6J MGI:3765986
ht2
Scn5atm1Clhh/Scn5a+ involves: 129 * 129S/SvEv * C57BL/6J MGI:3765987
ht3
Scn5atm1Clhh/Scn5a+ involves: 129/SvEv MGI:5582068


Genotype
MGI:3765986
hm1
Allelic
Composition
Scn5atm1Clhh/Scn5atm1Clhh
Genetic
Background
involves: 129 * 129S/SvEv * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Scn5atm1Clhh mutation (0 available); any Scn5a mutation (105 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mice begin to die at E10.5 and none are born

embryo
• at E10.5, 2 of 5 mice are smaller than wild-type
• at E10.5, all embryos exhibit necrosis compared to no wild-type mice

cardiovascular system
• at E10.5, 1 of 5 mice exhibited an irregular heartbeat

growth/size/body
• at E10.5, 2 of 5 mice are smaller than wild-type




Genotype
MGI:3765987
ht2
Allelic
Composition
Scn5atm1Clhh/Scn5a+
Genetic
Background
involves: 129 * 129S/SvEv * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Scn5atm1Clhh mutation (0 available); any Scn5a mutation (105 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• following tail clipping one mouse exhibited generalized seizure and died
• however, the lifespan of other mice is normal
• fewer than expected mice are recovered 3 to 4 weeks after birth

cardiovascular system
• unlike in wild-type mice, application of programmed electrical stimulation induced ventricular tachycardia in 8 of 9 mice
• electrogram duration (EGD) during programmed electrical stimulation parallels (PES) arrhythmic tendencies
• unlike in wild-type mice, propranolol fails to suppress arrhythmias following treatment with isoproterenol
• isoproterenol does not affect arrhythmia status during PES whereas in wild-type mice it induces arrhythmic effects
• mexiletine suppresses arrhythmias in 4 of 5 mice without effecting EGD
• hearts exhibit greater increases in electrogram duration (EGD) than wild-type hearts during programmed electrical stimulation (PES)
• EGD during PES parallels arrhythmic tendencies
• mice exhibit greater stimulus to response latencies measured at the beginning of the PES sequences than do wild-type mice
• mice exhibit larger ventricular effective refractory period than wild-type mice (37+/-7 msec compared to 29+/-6 msec)
• unlike in wild-type mice, 1 uM propranolol accentuates the increase in EGD as S1S2 intervals are shortened
• treatment with propranolol increases EGD
• action potential is prolonged in myocytes (152+/-17.8 msec compared to 55+/-6.6 msec in wild-type cells)
• unlike in wild-type mice, myocytes exhibit early afterdepolarization and persistent sodium tail currents

behavior/neurological
• following tail clipping one mouse exhibited generalized seizure and died

nervous system
• following tail clipping one mouse exhibited generalized seizure and died




Genotype
MGI:5582068
ht3
Allelic
Composition
Scn5atm1Clhh/Scn5a+
Genetic
Background
involves: 129/SvEv
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Scn5atm1Clhh mutation (0 available); any Scn5a mutation (105 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• 6 of 10 mice under ketamine anesthesia show sinus bradycardia after pacing
• 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
• electrocardiographic waveforms suggest slow atrioventricular node conduction
• 4 of 10 mice under ketamine anesthesia show II to III atrioventricular block
• mice under avertin anesthesia show longer PR intervals
• mice under avertin anesthesia show longer QRS durations
• 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
• 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





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last database update
12/10/2024
MGI 6.24
The Jackson Laboratory