Phenotypes Associated with This Genotype

Genotype
MGI:6502640

• Allelic Composition: Prrt2^{tm1d(KOMP)Wtsi}/Prrt2⁺
• Genetic Background: B6(Cg)-Prrt2^{tm1d(KOMP)Wtsi}

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

growth/size/body

decreased body weight ( J:299667 )

• mice are underweight throughout development and into adulthood

behavior/neurological

impaired righting response ( J:299667 )

• mice show differences in righting reflex at P12-P14 which disappears in adulthood

dystonia ( J:299667 )

• some mice exhibit periods of apparent behavioral arrests and semi-rhythmic truncal movements at P11-P13

• by P7, and peaking at P11-P13, approximately 3-5% of mice exhibit variable combinations of truncal, hindlimb, and forelimb dystonias ranging from subtle to overt

• dystonic posturing lasts less than 2 minutes

impaired coordination ( J:299667 )

• mice exhibit impaired rope climbing showing increased rope climbing time, decreased motor coordination on a raised-beam task, and decreased performance across days on a rotarod

nervous system

decreased excitatory postsynaptic current amplitude ( J:299667 )

• amplitude of EPSCs evoked by successive stimulation of parallel fiber axons is diminished

muscle

dystonia ( J:299667 )

• by P7, and peaking at P11-P13, approximately 3-5% of mice exhibit variable combinations of truncal, hindlimb, and forelimb dystonias ranging from subtle to overt

• dystonic posturing lasts less than 2 minutes

• some mice exhibit periods of apparent behavioral arrests and semi-rhythmic truncal movements at P11-P13

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
episodic kinesigenic dyskinesia 1		DOID:0090053	OMIM:128200	J:299667