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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Prrt2tm1a(KOMP)Wtsi
targeted mutation 1a, Wellcome Trust Sanger Institute
MGI:4362325
Summary 3 genotypes


Genotype
MGI:5824904
hm1
Allelic
Composition
Prrt2tm1a(KOMP)Wtsi/Prrt2tm1a(KOMP)Wtsi
Genetic
Background
C57BL/6N-Atm1Brd Prrt2tm1a(KOMP)Wtsi/Wtsi
Cell Lines EPD0284_6_H06
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Prrt2tm1a(KOMP)Wtsi mutation (4 available); any Prrt2 mutation (17 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
N
• adult mice show normal locomotor activity with no significant changes in the time spent in the center versus the perimeter of the open field or in the frequency of line crossing in these areas, suggesting a normal anxiety level
• adult mice show normal motor coordination and gait in accelerating rotarod and foot print tests as well as normal cognition in novel object and cued/contextual fear conditioning tests
• mice show increased sensitivity to the convulsive effects of pentylentetrazol (PTZ), with a significantly longer seizure duration and higher overall propensity index than wild-type controls
• mice show a significantly longer duration of grooming during 3-min maternal separation at P16
• however, grooming duration is normal in adult mice
• although normal at birth, mice develop paroxysmal movements (bouncing and back walking) at the onset of locomotion
• however, righting reflex latency is relatively normal at P4, P8 and P12, suggesting normal motor coordination development
• mice show a significantly higher frequency of loss of balance during 3-min maternal separation at P8 and P16
• a higher frequency of loss of balance is still seen in adult mice
• mice show a higher frequency of bouncing (short body jerks when placed with the four paws on the floor), during 3-min maternal separation at P4, P8 and P12
• bouncing is still present at P12 and P16, unlike in wild-type controls
• mice exhibit wild running and jumping in response to audiogenic stimuli that are ineffective in wild-type controls
• mice show a significantly higher frequency of back walking during 3-min maternal separation at P12 and P16
• a higher frequency of back walking is still seen in adult mice
• mice exhibit wild running and jumping in response to audiogenic stimuli that are ineffective in wild-type controls
• in response to a single 60-s 120 dB white tone, all mice exhibit audiogenic seizures manifested as wild, explosive and uncontrolled running episodes with an average latency of 25.2 +/- 7.2 s and an average duration of 18.5 +/- 5.4 s
• wild running is typically unidirectional and intermingled by back walking episodes that are accompanied by jumping in 50% of cases
• however, wild running is never followed by myoclonies or overt tonic-clonic seizures and is not associated with cortical EEG alterations

nervous system
N
• mice show no significant alterations in the thickness of the corpus callosum, in the CA1, CA3 and dentate gyrus regions of the hippocampus, or in the molecular and granule layers of the cerebellum
• mice show increased sensitivity to the convulsive effects of pentylentetrazol (PTZ), with a significantly longer seizure duration and higher overall propensity index than wild-type controls
• in response to a single 60-s 120 dB white tone, all mice exhibit audiogenic seizures manifested as wild, explosive and uncontrolled running episodes with an average latency of 25.2 +/- 7.2 s and an average duration of 18.5 +/- 5.4 s
• wild running is typically unidirectional and intermingled by back walking episodes that are accompanied by jumping in 50% of cases
• however, wild running is never followed by myoclonies or overt tonic-clonic seizures and is not associated with cortical EEG alterations
• young adult mice show a significant reduction in the thickness of the neocortex in medial and caudal regions relative to wild-type controls
• however, no changes in cortical thickness are noted in frontal regions
• mice show an increase in both VGLUT1 mean intensity and number of puncta in the hilus of the dentate gyrus
• VGLUT1 mean intensity, but not the number of puncta, is significantly decreased in the granule cell (GC) layer of the cerebellum
• mice show an increase in VGAT mean intensity, but not in the number of puncta, in the molecular layer of the cerebellum
• patch-clamp electrophysiology in hippocampal and cerebellar slices revealed specific effects in the cerebellum, consisting in a higher excitatory strength at parallel fiber-Purkinje cell synapses during high frequency stimulation
• the amplitude of eIPSCs is significantly increased in DG GCs with a corresponding significant decrease in the paired-pulse ratio (PPR) at short inter-pulse intervals
• whole-cell voltage-clamp recordings of dentate gyrus (DG) granule cells (GCs) in hippocampal slices in the presence of tetrodotoxin (TTX) revealed a >2-fold increase in the frequency of mEPSCs, in the absence of any effect on amplitude




Genotype
MGI:5700964
hm2
Allelic
Composition
Prrt2tm1a(KOMP)Wtsi/Prrt2tm1a(KOMP)Wtsi
Genetic
Background
C57BL/6N-Prrt2tm1a(KOMP)Wtsi/Wtsi
Cell Lines EPD0284_6_H06
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Prrt2tm1a(KOMP)Wtsi mutation (4 available); any Prrt2 mutation (17 available)
Data Sources
phenotype observed in females
phenotype observed in males
N normal phenotype
homeostasis/metabolism




Genotype
MGI:5824979
ht3
Allelic
Composition
Prrt2tm1a(KOMP)Wtsi/Prrt2+
Genetic
Background
C57BL/6N-Atm1Brd Prrt2tm1a(KOMP)Wtsi/Wtsi
Cell Lines EPD0284_6_H06
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Prrt2tm1a(KOMP)Wtsi mutation (4 available); any Prrt2 mutation (17 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• heterozygotes do not exhibit any pathogenic phenotype, but show persistence of bouncing at P12 and P16, unlike in wild-type controls





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last database update
11/19/2024
MGI 6.24
The Jackson Laboratory