Phenotypes Associated with This Genotype

Genotype
MGI:4833820

• Allelic Composition: Kcna1^tm1Tem/Kcna1^tm1Tem
• Genetic Background: involves: 129S7/SvEvBrd

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

mortality/aging

premature death ( J:164091 )

• die beginning at 2-3 weeks of age

postnatal lethality, incomplete penetrance ( J:164091 )

• die beginning at 2-3 weeks of age

behavior/neurological

seizures ( J:164091 )

• develop epilepsy

• seizures exacerbate cardiac abnormalities

myoclonus ( J:164091 )

• myoclonus that corresponds to prolonged bradycardia

tonic-clonic seizures ( J:164091 )

cardiovascular system

abnormal cardiovascular system physiology ( J:164091 )

• mice exhibit interictal cardiac abnormalities

decreased heart rate ( J:164091 )

• prolonged bradycardia, with extended periods of sinus bradycardia lasting many minutes

• however, overall basal heart rate is similar to wild-type, although the heart rate is more variable than in controls

ventricular premature beat ( J:164091 )

• excessive premature ventricular contractions

abnormal impulse conducting system conduction ( J:164091 )

• mice exhibit multiple patterns of functional cardiac rhythm disturbances

atrioventricular block ( J:164091 )

• 5-fold increase in AV conduction blocks compared to controls

• most common AV block is type I, second-degree block characterized by a PR interval that progressively lengthened until the QRS complex was dropped

• less often, type 2, second-degree blocks are seen in which the heart skipped one or more beats without obvious PR lengthening

muscle

myoclonus ( J:164091 )

• myoclonus that corresponds to prolonged bradycardia

nervous system

seizures ( J:164091 )

• develop epilepsy

• seizures exacerbate cardiac abnormalities

myoclonus ( J:164091 )

• myoclonus that corresponds to prolonged bradycardia

tonic-clonic seizures ( J:164091 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
epilepsy		DOID:1826		J:164091