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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Syn2tm1Pggd
targeted mutation 1, Paul Greengard
MGI:3045984
Summary 4 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Syn2tm1Pggd/Syn2tm1Pggd B6.1129-Syn2tm1Pggd MGI:5517484
hm2
Syn2tm1Pggd/Syn2tm1Pggd Not Specified MGI:3045985
cx3
Syn1tm1Pggd/Syn1tm1Pggd
Syn2tm1Pggd/Syn2tm1Pggd
Syn3tm1Pggd/Syn3tm1Pggd
involves: 129 * 129P2/OlaHsd * 129X1/SvJ * C57BL/6 MGI:5698534
cx4
Syn1tm1Pggd/Syn1tm1Pggd
Syn2tm1Pggd/Syn2tm1Pggd
involves: 129P2/OlaHsd MGI:3045986


Genotype
MGI:5517484
hm1
Allelic
Composition
Syn2tm1Pggd/Syn2tm1Pggd
Genetic
Background
B6.1129-Syn2tm1Pggd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Syn2tm1Pggd mutation (2 available); any Syn2 mutation (16 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• in the social recognition test, adults spend a similar time in exploring the intruder mouse during all sessions and both young and adult mutants do not increase the exploration of the novel intruder mouse on the fifth session, indicating defective short-term social recognition
• mutants bury fewer marbles than controls when placed in a cage with new bedding and marbles and this behavior is associated with reduced time spent in digging, whereas rearing behavior is unchanged
• after habituation to marbles, mutants still bury less marbles than controls, suggesting this behavior is no due to an altered response to novelty but a decrease in interest toward the environment
• however, mutants exhibit normal anxiety related behaviors
• in the social dominance tube test, adults show more dominant behavior than controls
• young and adult mutants exhibit increased repetitive self-grooming behavior
• in a modified three-chamber social approach test, mutants exhibit reduced interest for both the social stimulus (unfamiliar stranger mouse) and the novel empty cup
• in the social novelty test, young and adult mutants do not discriminate between familiar and novel mice compared to controls that spend more time exploring the novel mouse than a familiar mouse
• in the resident-intruder test, mutants show reduced social interaction with the intruder mice after 1-2 months of social isolation

taste/olfaction
N
• olfaction is intact

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
autism spectrum disorder DOID:0060041 J:201707




Genotype
MGI:3045985
hm2
Allelic
Composition
Syn2tm1Pggd/Syn2tm1Pggd
Genetic
Background
Not Specified
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Syn2tm1Pggd mutation (2 available); any Syn2 mutation (16 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• epileptic seizures in adults
• at E16, brain weight was 17% lower than normal
• by E19 the brain weight reduction was only 12%
• synapse formation is delayed 2-3 days in culture
• neurons in culture are arrested in an undifferentiated stage prior to axon formation
• the number of synaptic vesicles within the mossy fiber terminals in the hilar region of the dentate gyrate is reduced, however the total number of docked synaptic vesicles does not differ
• pre-symptomatic mutants exhibit network impairments of the dentate gyrus, showing reduced mean amplitude of the response in the hilar region and a longer propagation time of evoked field postsynaptic potentials (fPSP), indicating decreased activity in the hilus upon stimulation of the perforant path
• hilar mossy cells of both young pre-symptomatic and older symptomatic (4-6 months) mice exhibit decreased excitability, showing a lower firing rate, an increase in the rheobase, and reduced input resistance
• however, granule cell excitability is normal
• reduction in synaptic activity in dentate gyrus mossy cells of young pre-symptomatic mutants
• inhibitory output of hilar mossy cells to granule cells is reduced in both pre-symptomatic and symptomatic mutants; 40Hz tetanic stimulation results in an increase in depression at inhibitory synapses in granule neurons, however it is similar to wild-type at excitatory synapses, and the ratio between the evoked excitatory and inhibitory responses on the same granule cell is increased for the last 10 responses of the train, with a decrease of inhibitory responses
• pre-symptomatic mutants exhibit a longer propagation time of evoked field postsynaptic potentials in the hilar region of the dentate gyrus
• hilar mossy cells of the dentate gyrus of both pre-symptomatic and symptomatic mutants show a reduction in miniature excitatory postsynaptic current (mEPSC) frequency and amplitude after blocking GABA receptors and NA+ channels with bicucalline indicating a decrease in excitatory presynaptic input on hilar mossy cells
• the depression induced by a train of stimuli (20 Hz for 5s) is reduced in hippocampal slices of young mutants, suggesting a reduced feedback inhibition of the granule cell layer

behavior/neurological
• epileptic seizures in adults

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
epilepsy DOID:1826 J:202031




Genotype
MGI:5698534
cx3
Allelic
Composition
Syn1tm1Pggd/Syn1tm1Pggd
Syn2tm1Pggd/Syn2tm1Pggd
Syn3tm1Pggd/Syn3tm1Pggd
Genetic
Background
involves: 129 * 129P2/OlaHsd * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Syn1tm1Pggd mutation (2 available); any Syn1 mutation (22 available)
Syn2tm1Pggd mutation (2 available); any Syn2 mutation (16 available)
Syn3tm1Pggd mutation (2 available); any Syn3 mutation (22 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• opening of the home cage of adult mutants induces generalized tonic-clonic seizures that correlate with high amplitude and high frequency generalized synchronized activity followed by post-ictal depression in the theta frequency rage (3-6 Hz)
• seizures commence within seconds of cage opening and include vocalization, freezing, tail stiffing, back arching, bilateral limb movements, and loss of posture, followed by stereotypical grooming behavior
• the symptomatic seizure state is characterized by resistance to the epileptiform-promoting effects of 4-aminopyridine, by hypersensitivity to blockage of GABA(A) receptors and by the emergence of unresponsiveness to NMDA receptor antagonism
• opening of the home cage of adult mutants induces generalized tonic-clonic seizures
• however, mice exhibit spontaneous seizures only vary rarely

nervous system
• opening of the home cage of adult mutants induces generalized tonic-clonic seizures that correlate with high amplitude and high frequency generalized synchronized activity followed by post-ictal depression in the theta frequency rage (3-6 Hz)
• seizures commence within seconds of cage opening and include vocalization, freezing, tail stiffing, back arching, bilateral limb movements, and loss of posture, followed by stereotypical grooming behavior
• the symptomatic seizure state is characterized by resistance to the epileptiform-promoting effects of 4-aminopyridine, by hypersensitivity to blockage of GABA(A) receptors and by the emergence of unresponsiveness to NMDA receptor antagonism
• opening of the home cage of adult mutants induces generalized tonic-clonic seizures
• however, mice exhibit spontaneous seizures only vary rarely
• EEG indicates an abrupt transition during early adulthood from a seizure-free presymptomatic latent state to a consistent symptomatic state of sensory-induced seizures
• EEG indicates that during the latent period, larger field responses are elicited in slices from mutants than in controls

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
epilepsy DOID:1826 J:175256




Genotype
MGI:3045986
cx4
Allelic
Composition
Syn1tm1Pggd/Syn1tm1Pggd
Syn2tm1Pggd/Syn2tm1Pggd
Genetic
Background
involves: 129P2/OlaHsd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Syn1tm1Pggd mutation (2 available); any Syn1 mutation (22 available)
Syn2tm1Pggd mutation (2 available); any Syn2 mutation (16 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
N
• brain weight was normal
• abnormal neuron phenotype was restored
• synapse formation is delayed 2-3 days in culture





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last database update
01/12/2022
MGI 6.17
The Jackson Laboratory