Phenotypes Associated with This Genotype

Genotype
MGI:2654056

• Allelic Composition: Unc13a^tm1Bros/Unc13a^tm1Bros; Unc13b^tm2Bros/Unc13b^tm2Bros
• Genetic Background: involves: 129

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

mortality/aging

neonatal lethality, complete penetrance ( J:77339 )

• all mutants born alive, die within 1 hour after birth

nervous system

abnormal synapse morphology ( J:77339 )

• length of active zones is larger in synapses, thus the number of docked vesicles per um active zone is lower, however mutants form normal numbers of synapses

• cultured neurons are unable to exocytose and lack calcium-triggered endocytotic activity

abnormal synaptic vesicle number ( J:77339 )

• complete loss of fusion competent vesicles

abnormal neuron physiology ( J:167753 )

• flash-response is abolished in neurons compared with control mice

abnormal synaptic transmission ( J:77339 )

• spontaneous, action potential evoked, and hypertonically evoked vesicular release (synaptic transmission) are abolished

abnormal excitatory postsynaptic currents ( J:167753 )

• excitatory postsynaptic current induced by calcium uncaging is abolished compared to in control mice