Phenotypes associated with this allele

• Allele Symbol: Prrt2^{tm1d(KOMP)Wtsi}
• Allele Name: targeted mutation 1d, Wellcome Trust Sanger Institute
• Allele ID: MGI:6502626
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Prrt2^tm1d(KOMP)Wtsi/Prrt2^tm1d(KOMP)Wtsi	B6(Cg)-Prrt2^tm1d(KOMP)Wtsi	MGI:6502639
ht2	Prrt2^tm1d(KOMP)Wtsi/Prrt2^+	B6(Cg)-Prrt2^tm1d(KOMP)Wtsi	MGI:6502640

Genotype
MGI:6502639

hm1

• Allelic Composition: Prrt2^{tm1d(KOMP)Wtsi}/Prrt2^{tm1d(KOMP)Wtsi}
• 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 P10-P14 which disappears in adulthood

dystonia ( J:299667 )

• by P7, and peaking at P11-P13, approximately 5-10% of mice exhibit variable combinations of truncal, hindlimb, and forelimb dystonias ranging from subtle to overt

• dystonic posturing lasts less than 2 minutes

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

• a small number of mice show paroxysmal gait dysfunction characterized by extension of the hindlimbs with elevation of the caudal trunk

• paroxysmal dystonia is milder, less frequent, and progressively more difficult to detect after P20

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

increased locomotor activity ( J:299667 )

• mice exhibit increased activity in the open field

nervous system

abnormal synapse morphology ( J:299667 )

• synapses in the cerebellar molecular layer have increased numbers of docked vesicles but decreased vesicle numbers overall

abnormal excitatory postsynaptic currents ( J:299667 )

• however, cerebellar nuclear excitability is normal

• mice show reduced parallel fiber short-term facilitation at parallel fiber-Purkinje cell synapses

• Purkinje cells show diminished excitability in response to current injection; even with 0 injected current, Purkinje cells fire at a much lower frequency

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 5-10% of mice exhibit variable combinations of truncal, hindlimb, and forelimb dystonias ranging from subtle to overt

• dystonic posturing lasts less than 2 minutes

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

• a small number of mice show paroxysmal gait dysfunction characterized by extension of the hindlimbs with elevation of the caudal trunk

• paroxysmal dystonia is milder, less frequent, and progressively more difficult to detect after P20

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

Genotype
MGI:6502640

ht2

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

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 )

• 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

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