Phenotypes associated with this allele

• Allele Symbol: Stx1b^tm1.1Sud
• Allele Name: targeted mutation 1.1, Thomas C Sudhof
• Allele ID: MGI:3804480
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Stx1b^tm1.1Sud/Stx1b^tm1.1Sud	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3832395
cx2	Stx1a^tm2.1Sud/Stx1a^tm2.1Sud Stx1b^tm1.1Sud/Stx1b^tm1.1Sud	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3832394
cx3	Stx1b^tm1.1Sud/Stx1b^tm1.1Sud Unc13a^tm1Bros/Unc13a^tm1Bros	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3832397

Genotype
MGI:3832395

hm1

• 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

Genotype
MGI:3832394

cx2

• Allelic Composition: Stx1a^tm2.1Sud/Stx1a^tm2.1Sud; Stx1b^tm1.1Sud/Stx1b^tm1.1Sud
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

nervous system

abnormal neuron morphology ( J:138035 )

• a 20% increase in size of the postsynaptic density is observed compared to cultured cortical neurons with wild type Stx1a

abnormal synaptic vesicle recycling ( J:138035 )

• about a 25% increase in synaptic vesicle docking at synapses in cultured cortical neurons compared to controls

Genotype
MGI:3832397

cx3

• Allelic Composition: Stx1b^tm1.1Sud/Stx1b^tm1.1Sud; Unc13a^tm1Bros/Unc13a^tm1Bros
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

mortality/aging

postnatal lethality ( J:138035 )

• homozygosity of the Stx1b mutant allele in combination with Unc13a-deficiency does not rescue the lethality observed for Unc13a-null mutants; no double homozygous mice are found at P3