Phenotypes Associated with This Genotype

Genotype
MGI:3621213

• Allelic Composition: Gja5^tm1Paul/Gja5^tm1Paul
• Genetic Background: either: (involves: 129S4/SvJae) or (involves: 129S4/SvJae * C57BL/6)

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

cardiovascular system

abnormal impulse conducting system conduction ( J:46430 )

• homozygotes exhibit significantly delayed atrioventricular and intraventricular conduction as well as uncoordinated ventricular excitation despite normal heart rates and normal sinus rhythms

• no histological evidence of ventricular hypertrophy or dilation, and no signs of abnormal cardiac orientation are observed

prolonged PR interval ( J:46430 )

• three-lead ECGs indicate that mutant PR intervals are at least 21% longer than wild-type PR intervals, indicating delayed atrioventricular conduction

• prolonged PR intervals associated with a normal sinus rhythm indicate presence of a first-degree atrioventricular block

abnormal frontal plane axis ( J:46430 )

• homozygotes exhibit spatially altered propagation of electrical activity in the ventricles i.e. a significantly wider distribution of frontal plane axes relative to wild-type mice (-130 to + 180 vs -80 to +90), as measured by vectorially summing the QRS amplitudes in limb leads

prolonged P wave ( J:46430 )

• ECGs indicate that mutant P waves are, on average, ~9% longer than wild-type P waves

abnormal QRS complex ( J:46430 )

fragmented QRS complex ( J:46430 )

• mutant ECGs show split QRS complexes in lead II, rSR' morphology in lead III and wide S waves in lead I, indicating uncoordinated ventricular activation

• 90% of homozygotes show either a split QRS complex in lead II or rSR' morphology in lead III compared with 13% of wild-type and 20% of heterozygous mutant mice

prolonged QT interval ( J:46430 )

• mutant ECGs indicate prolonged QT intervals compared with wild-type ECGs

bundle branch block ( J:46430 )

• presence of broad, split or notched QRS complexes associated with frontal plane axis deviation indicate a bundle branch block

prolonged QRS complex duration ( J:46430 )

• mutant three-lead ECGs that mutant QRS complexes are on average 34% longer than wild-type QRS complexes, indicating delayed intraventricular conduction