Phenotypes associated with this allele

• Allele Symbol: Gja1^tm10Kwi
• Allele Name: targeted mutation 10, Klaus Willecke
• Allele ID: MGI:5476936
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Gja1^tm10Kwi/Gja1^tm10Kwi Tg(Myh6-icre/ERT2)#Wet/0	involves: 129P2/OlaHsd * C57BL/6 * FVB/N	MGI:5477914
cn2	Gja1^tm10Kwi/Gja1^tm10Kwi Tg(Myh6-cre)2182Mds/0	involves: 129P2/OlaHsd * C57BL/6 * FVB/N	MGI:5477915

Genotype
MGI:5477914

cn1

• Allelic Composition: Gja1^tm10Kwi/Gja1^tm10Kwi; Tg(Myh6-icre/ERT2)#Wet/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB/N

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

mortality/aging

premature death ( J:194957 )

• all mice die 16 to 21 days after tamoxifen-treatment

cardiovascular system

cardiovascular system phenotype ( J:194957 )

N • mice exhibit normal heart beating frequency and PQ duration

ventricular tachycardia ( J:194957 )

• sustained polymorphic ventricular tachycardia degenerating into ventricular fibrillation in tamoxifen-treated mice

• tamoxifen-treated mice exhibit sustained ventricular tachycardia or ventricular fibrillation induced by fixed-rate epicardial stimulation of the ventricle unlike control mice

irregular heartbeat ( J:194957 )

• non-sustained episodes of monomorphic and polymorphic ventricular arrhythmias 15 to 17 days after tamoxifen-treatment

ventricular fibrillation ( J:194957 )

• in tamoxifen-treated mice

atrioventricular block ( J:194957 )

• in tamoxifen-treated mice

prolonged QRS complex duration ( J:194957 )

• 2.1-fold in tamoxifen-treated mice

abnormal myocardial fiber physiology ( J:194957 )

• cardiomyocytes form tamoxifen-treated mice exhibit reduced average peak inward sodium current density, prolonged time course of inward sodium channel inactivation, reduced average peak outward current density and increased action potential duration at 50 and 70% depolarization compared with control cells

• however, cardiomyocytes exhibit normal voltage-dependent inactivation, time course of recovery from inactivation, density of inward rectifier current, resting potential, action potential amplitude and action potential duration at 90% repolarization

Genotype
MGI:5477915

cn2

• Allelic Composition: Gja1^tm10Kwi/Gja1^tm10Kwi; Tg(Myh6-cre)2182Mds/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB/N

mortality/aging

neonatal lethality, complete penetrance ( J:194957 )

• all mice die on the first day after birth

cardiovascular system

cardiovascular system phenotype ( J:194957 )

N • mice exhibit normal heart beating frequency, PQ duration and QRS amplitude

abnormal myocardial trabeculae morphology ( J:194957 )

• minor thickening and irregularities in the right ventricle

abnormal cardiac outflow tract development ( J:194957 )

• abnormal pouch formation at the subpulmonary outflow tract

• however, the outflow tract is open in neonates

prolonged QRS complex duration ( J:194957 )

• 3-fold at E16.5

muscle

abnormal myocardial trabeculae morphology ( J:194957 )

• minor thickening and irregularities in the right ventricle