Phenotypes associated with this allele

• Allele Symbol: Syn3^tm1Pggd
• Allele Name: targeted mutation 1, Paul Greengard
• Allele ID: MGI:2675750
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Syn3^tm1Pggd/Syn3^tm1Pggd	B6.129X1-Syn3^tm1Jfe	MGI:5517485
hm2	Syn3^tm1Pggd/Syn3^tm1Pggd	involves: 129X1/SvJ	MGI:2675753
cx3	Syn1^tm1Pggd/Syn1^tm1Pggd Syn2^tm1Pggd/Syn2^tm1Pggd Syn3^tm1Pggd/Syn3^tm1Pggd	involves: 129 * 129P2/OlaHsd * 129X1/SvJ * C57BL/6	MGI:5698534

Genotype
MGI:5517485

hm1

• Allelic Composition: Syn3^tm1Pggd/Syn3^tm1Pggd
• Genetic Background: B6.129X1-Syn3^tm1Jfe

• ♀: 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

decreased aggression towards mice ( J:201707 )

♂ • in the social dominance tube test, adults show more submissive behavior than controls

abnormal social investigation ( J:201707 )

♂ • in the social novelty test, young mutants do not discriminate between familiar and novel mice compared to controls that spend more time exploring the novel mouse than a familiar mouse indicating altered social novelty preference

♂ • in the resident-intruder test, mutants show reduced social interaction with the intruder mice after 1-2 months of social isolation

♂ • however, mutants exhibit normal anxiety related behaviors

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:2675753

hm2

• Allelic Composition: Syn3^tm1Pggd/Syn3^tm1Pggd
• Genetic Background: involves: 129X1/SvJ

nervous system

delayed axon extension ( J:77048 )

• observed in hippocampal neurons in culture

increased excitatory postsynaptic current amplitude ( J:77048 )

• a slightly larger amplitude was noted

abnormal inhibitory postsynaptic currents ( J:77048 )

• a reduction in amplitude was noted

increased synaptic depression ( J:77048 )

• reduced transmission noted after a 5 second stimulation in homozygotes

• time constants for depression range is increased two fold

cellular

delayed axon extension ( J:77048 )

• observed in hippocampal neurons in culture

Genotype
MGI:5698534

cx3

• Allelic Composition: Syn1^tm1Pggd/Syn1^tm1Pggd; Syn2^tm1Pggd/Syn2^tm1Pggd; Syn3^tm1Pggd/Syn3^tm1Pggd
• Genetic Background: involves: 129 * 129P2/OlaHsd * 129X1/SvJ * C57BL/6

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