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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Syn1tm1Pggd
targeted mutation 1, Paul Greengard
MGI:2448356
Summary 4 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Syn1tm1Pggd/Syn1tm1Pggd B6.129P2-Syn1tm1Pggd MGI:5517482
hm2
 		Syn1tm1Pggd/Syn1tm1Pggd involves: 129 MGI:3032587
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:5517482
hm1
Allelic
Composition		 Syn1tm1Pggd/Syn1tm1Pggd
Genetic
Background		 B6.129P2-Syn1tm1Pggd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Syn1tm1Pggd mutation (2 available); any Syn1 mutation (22 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
behavior/neurological
impaired social transmission of food preference ( J:201707 )
• in the social transmission of food preference task, mutants show an absence of preference for the cued food over the novel food after one hour after social interaction with the demonstrator cagemate
abnormal emotion/affect behavior ( J:201707 )
• 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 not due to an altered response to novelty but a decrease in interest toward the environment
• however, mutants exhibit normal anxiety related behaviors
increased aggression towards mice ( J:201707 )
• in the social dominance tube test, adults show more dominant behavior compared to controls
abnormal social investigation ( J:201707 )
• in the resident-intruder test, mutants show reduced social interaction with the intruder mice after 1-2 months of social isolation

taste/olfaction
taste/olfaction phenotype ( J:201707 )
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:3032587
hm2
Allelic
Composition		 Syn1tm1Pggd/Syn1tm1Pggd
Genetic
Background		 involves: 129
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Syn1tm1Pggd mutation (2 available); any Syn1 mutation (22 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
behavior/neurological
abnormal seizure response to electrical stimulation ( J:29086 )
• electrical stimulation to the amygdala resulted in clonic seizures of longer duration and intensity than controls

nervous system
abnormal seizure response to electrical stimulation ( J:29086 )
• electrical stimulation to the amygdala resulted in clonic seizures of longer duration and intensity than controls
abnormal hippocampus pyramidal cell morphology ( J:29085 )
• retarded growth of predendritic neurites and axons was observed in vitro
delayed CNS synapse formation ( J:29085 )
• observed in hippocampal neurons in culture
abnormal synaptic vesicle clustering ( J:29086 )
• there is lack of synaptic vesicle clustering at presynaptic terminals
abnormal excitatory postsynaptic potential ( J:29086 )
• recovery of synaptic transmission from tetanic stimulation was delayed
abnormal neurotransmitter secretion ( J:29086 )
• release of glutamate from synaptosomes purified from the cerebral cortex was impaired; impairment may be due to lack of synaptic vesicle clustering at presynaptic terminals




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 (24 available)
Syn3tm1Pggd mutation (2 available); any Syn3 mutation (35 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
behavior/neurological
environmentally induced seizures ( J:175256 )
• 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
tonic-clonic seizures ( J:175256 )
• opening of the home cage of adult mutants induces generalized tonic-clonic seizures
• however, mice exhibit spontaneous seizures only vary rarely

nervous system
environmentally induced seizures ( J:175256 )
• 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
tonic-clonic seizures ( J:175256 )
• opening of the home cage of adult mutants induces generalized tonic-clonic seizures
• however, mice exhibit spontaneous seizures only vary rarely
abnormal brain wave pattern ( J:175256 )
• 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 (24 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
nervous system
nervous system phenotype ( J:91113 )
N
• brain weight was normal
• abnormal neuron phenotype was restored
abnormal CNS synapse formation ( J:91113 )
• synapse formation is delayed 2-3 days in culture




Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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11/12/2024
MGI 6.24 		The Jackson Laboratory