Phenotypes Associated with This Genotype

Genotype
MGI:5469978

• Allelic Composition: Tg(Pnkd*A7V*A9V,-DsRed)671Ljp/0
• Genetic Background: B6.Cg-Tg(Pnkd*A7V*A9V,-DsRed)671Ljp

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

behavior/neurological

abnormal behavioral response to xenobiotic ( J:192798 )

• mice challenged with an injection of caffeine exhibit dyskinetic attacks about 10-15 minutes after treatment that persists for 2 hours compared to moderate hyperlocomotion during the first hour in wild-type controls

• mice challenged with an injection of ethanol exhibit dyskinetic attacks beginning 10 minutes after injection and lasting 2-4 hours, and show severe axial stiffness, with some abnormal movements of the limbs

abnormal motor capabilities/coordination/movement ( J:192798 )

• mice exhibit dyskinesia after stress such as prolonged handling, that includes oral-facial movements such as tongue protrusions and stereotypic movements such as repetitive sniffing and rearing in one location

homeostasis/metabolism

abnormal dopamine level ( J:192798 )

• while dopamine levels in the striatum are normal at rest, after injection of caffeine, mutants exhibit higher levels of the dopamine metabolite 3,4-dihydroxyphenylacetic acid (DOPAC), higher DOPAC/dopamine ratios, and higher levels of the terminal metabolite of dopamine, homovanillic acid, than wild-type mice

• however, mutants exhibit normal levels of serotonin and its metabolized product following stimulation with caffeine

decreased dopamine level ( J:192798 )

• extracellular concentration of dopamine is less than 40% of that of controls under basal conditions, indicating lower striatal dopamine release at rest

nervous system

abnormal synaptic transmission ( J:192798 )

• mutants exhibit deficits in nigrostriatal neurotransmission characterized by low levels of dopamine release, enhanced dopamine reuptake, and increase of dopamine release in response to caffeine and ethanol

abnormal synaptic dopamine release ( J:192798 )

• mutants exhibit lower striatal dopamine release at rest, but an increase in percentage of striatal dopamine release in response to challenges with caffeine or stress

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
paroxysmal nonkinesigenic dyskinesia 1		DOID:0090049	OMIM:118800	J:192798