Phenotypes associated with this allele

• Allele Symbol: Syt1^tm1Sud
• Allele Name: targeted mutation 1, Thomas C Sudhof
• Allele ID: MGI:1857252
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Syt1^tm1Sud/Syt1^tm1Sud	involves: 129S4/SvJae	MGI:2181655
cx2	Syt1^tm1Sud/Syt1^tm1Sud Tg(Thy1-Syt1/ECFP)1Sud/0	involves: 129S4/SvJae * C57BL/6 * SJL	MGI:3763240

Genotype
MGI:2181655

hm1

• Allelic Composition: Syt1^tm1Sud/Syt1^tm1Sud
• Genetic Background: involves: 129S4/SvJae

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

mortality/aging

postnatal lethality, complete penetrance ( J:21602 )

• homozygous animals become weak and die within 48 hours of birth

nervous system

nervous system phenotype ( J:171203 )

N

abnormal neuron physiology ( J:167753 )

• calcium-stimulated fast release of synaptic vesicles is delayed compared to in control neurons

• synaptic vesicle slow release induced by calcium uncaging in the presence of hypertonic sucrose solution is delayed compared to in control neurons

abnormal synaptic transmission ( J:171203 )

• defects in synchronous synaptic transmission is not restored by Otof over-expression

• however, Otof over-expression increases asynchronous release

abnormal CNS synaptic transmission ( J:21602 )

• cultured mutant hippocampal neurons exhibit greatly decreased postsynaptic responses evoked by whole-cell patch clamping compared to controls

• the fast, synchronous, Ca2+ dependent phase of neurotransmitter release is affected, while the spontaneous release of neurotransmitters is unaffected

abnormal excitatory postsynaptic currents ( J:171203 )

• hippocampal neurons exhibit decreased mean excitatory postsynaptic current (EPSC) amplitude that cannot be rescued by Otof over-expression

• mean EPSC integral is rescued by Otof over-expression

decreased excitatory postsynaptic current amplitude ( J:167753 )

• excitatory postsynaptic current amplitudes are reduced compared to in control mice

abnormal inhibitory postsynaptic currents ( J:122459 )

• inhibitions of postsynaptic currents (IPSCs) is impaired slightly similar to in Syt2^tm1Sud homozygotes

abnormal miniature excitatory postsynaptic currents ( J:171203 )

• miniature excitatory postsynaptic current is slightly increased by Otof over-expression

abnormal neurotransmitter secretion ( J:21602 )

• the fast, synchronous, Ca2+ dependent phase of neurotransmitter release is affected, while the spontaneous release of neurotransmitters is unaffected

behavior/neurological

abnormal suckling behavior ( J:21602 )

• homozygotes do not suckle; no milk is seen in stomachs and these mice are rejected by their mothers

endocrine/exocrine glands

abnormal adrenal gland physiology ( J:171203 )

• adrenal chromaffin cells exhibit reduced exocytosis compared with wild-type mice that cannot be rescued by Otof over-expression

Genotype
MGI:3763240

cx2

• Allelic Composition: Syt1^tm1Sud/Syt1^tm1Sud; Tg(Thy1-Syt1/ECFP)1Sud/0
• Genetic Background: involves: 129S4/SvJae * C57BL/6 * SJL

mortality/aging

postnatal lethality ( J:105052 )

• no alteration in survival compared to Syt^tm1Sud homozygotes is observed

nervous system

abnormal synaptic transmission ( J:105052 )

• transgene expression has no apparent effect on phenotype displayed by Syt^tm1Sud homozygotes