Phenotypes Associated with This Genotype

Genotype
MGI:5575893

• Allelic Composition: Tg(Myh6-KCNQ1_i2)H02Desc/0
• Genetic Background: involves: FVB

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

cardiovascular system

decreased heart rate ( J:132483 )

• mice show ECG anomalies indicative of decreased heart rate

abnormal atrioventricular node conduction ( J:132483 )

• 23% of 4-6 week old mice exhibit a Wenckebach phenomenon, suggesting an intranodal conduction defect

atrioventricular block ( J:132483 )

• prolonged AH interval, with a normal HV interval, leading to a non conducted A wave, indicating atrioventricular block originating from an intranodal conduction defect and not a His-bundle conduction defect

prolonged PR interval ( J:132483 )

abnormal heart electrocardiography waveform feature ( J:132483 )

• prolonged AH interval, with a normal HV interval, leading to a non conducted A wave, indicating AV block originating from an intranodal conduction defect

• ECG shows prolonged action potential duration and reduced outward K+ current

prolonged PP interval ( J:132483 )

prolonged QT interval ( J:132483 )

• QT interval is longer than in wild-type mice or in transgenic lines H08 or H05

• however, QRS duration is normal

abnormal T wave ( J:132483 )

• the rapid component of the T wave is drastically prolonged

abnormal sinoatrial node conduction ( J:132483 )

• sinus node dysfunction as indicated by a longer intrinsic sinus period under autonomic nervous blockade and an increase in minimum sinus period under isoproterenol infusion

abnormal P wave ( J:132483 )

• the P wave often superposes on the terminal phase of the previous T wave due to QT and PR lengthening

prolonged P wave ( J:132483 )

• longer P wave duration than wild-type mice or transgenic lines H08 and H05

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
long QT syndrome 1		DOID:0110644	OMIM:192500	J:132483