Phenotypes Associated with This Genotype

Genotype
MGI:5639272

• Allelic Composition: Tg(Prnp-SNCA*A53T)AAub/?
• Genetic Background: involves: FVB/N

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

nervous system

abnormal nervous system electrophysiology ( J:216589 )

♂ • middle-aged (7-8 months) dopaminergic substantia nigra neurons show an approximate 100% increase in mean firing rates, prolonged action potential repolarization, and more prominent pacemaking patterns

♂ • however, electrical activity of dopaminergic ventral tegmental area neurons is not altered

♂ • dopaminergic substantia nigra neurons from young (3-4 months) adults already show faster in vivo firing frequencies compared to controls, with mean firing frequencies about 50% higher, however, differences in action potential repolarization are not yet apparent at 3-4 months of age

♂ • the regularity of firing is lower in 3 month old dopaminergic substantia nigra neurons

abnormal neuron physiology ( J:216589 )

♂ • middle-aged (7-8 months) dopaminergic substantia nigra neurons show an approximate 100% increase in mean firing rates, prolonged action potential repolarization, and more prominent pacemaking patterns, with faster firing frequencies seen already at 3-4 months of age

abnormal channel response ( J:216589 )

♂ • approximate 40% reduction of maximal A-type Kv4.3 potassium conductances in dopaminergic substantia nigra neurons of middle-aged mice

♂ • intracellular dialysis of the reducing agent glutathione rescues the A-type K channel dysfunction

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Parkinson's disease 1		DOID:0060367	OMIM:168601	J:216589