Phenotypes Associated with This Genotype

Genotype
MGI:3832395

• Allelic Composition: Stx1b^tm1.1Sud/Stx1b^tm1.1Sud
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

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

mortality/aging

premature death ( J:138035 )

• mice succumb to generalized seizures around 2-3 months of age

behavior/neurological

ataxia ( J:138035 )

• mice exhibit severe ataxia when analyzed at 3 weeks

seizures ( J:138035 )

• epileptic seizures develop by after 2 weeks (postnatal)

• generalized seizures result in lethality at 2-3 months of age

nervous system

seizures ( J:138035 )

• epileptic seizures develop by after 2 weeks (postnatal)

• generalized seizures result in lethality at 2-3 months of age

abnormal adrenal chromaffin cell morphology ( J:138035 )

• large decrease in chromaffin vesicle docking is detected

abnormal neuron physiology ( J:138035 )

• spontaneous vesicular release rate and vesicular release probability are increased >2-fold in mutant synapses

• sucrose-induced release of synaptic vesicles is accelerated compared to controls

abnormal synaptic vesicle recycling ( J:138035 )

• refilling of the readily-releasable pool of vesicles after depletion by sucrose stimulation is enhanced

abnormal CNS synaptic transmission ( J:138035 )

abnormal excitatory postsynaptic currents ( J:138035 )

• use-dependent depression of EPSCs is greatly enhanced, while evoked EPSCs have normal amplitude and kinetics

abnormal miniature excitatory postsynaptic currents ( J:138035 )

• mEPSC frequency is increased about 40% in hippocampal neurons compared to wild-type

endocrine/exocrine glands

abnormal adrenal chromaffin cell morphology ( J:138035 )

• large decrease in chromaffin vesicle docking is detected