Phenotypes associated with this allele

• Allele Symbol: Synj1^tm1Pdc
• Allele Name: targeted mutation 1, Pietro De Camilli
• Allele ID: MGI:2179801
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Synj1^tm1Pdc/Synj1^tm1Pdc	involves: 129S1/Sv * C57BL/6	MGI:2181801

Genotype
MGI:2181801

hm1

• Allelic Composition: Synj1^tm1Pdc/Synj1^tm1Pdc
• Genetic Background: involves: 129S1/Sv * C57BL/6

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

neonatal lethality, incomplete penetrance ( J:58087 )

• incomplete penetrance; 85% of homozygous animals die within 24 hours of birth

postnatal lethality, complete penetrance ( J:58087 )

• animals surviving past P1 die within 15 days of birth

behavior/neurological

ataxia ( J:58087 )

weakness ( J:58087 )

• severe weakness was noted in homozygotes surviving past P1

convulsive seizures ( J:58087 )

• episodic convulsions were noted in homozygous mice

growth/size/body

postnatal growth retardation ( J:58087 )

• animals are significantly smaller than controls; a 3-fold weight difference was noted at P10

nervous system

convulsive seizures ( J:58087 )

• episodic convulsions were noted in homozygous mice

increased synaptic depression ( J:58087 )

• amplitude and duration of synaptic depression was enhanced in homozygous mice after stimulatory conditions