Phenotypes Associated with This Genotype

Genotype
MGI:3718445

• Allelic Composition: Unc13a^tm2Bros/Unc13a^tm2Bros
• Genetic Background: involves: FVB/N

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

mortality/aging

neonatal lethality, complete penetrance ( J:74347 )

• despite initially breathing, responding to tactile stimuli and exhibiting pain-avoidance reflexes, mice die within 1 to 2 hours of birth

nervous system

abnormal synaptic vesicle morphology ( J:74347 )

• probability of vesicle release is increased (10.5%+/-0.8% compared to 6.9%+/-0.6% in wild-type cells)

abnormal synaptic vesicle number ( J:74347 )

• ready releasable pools (RRPs) of vesicles are reduced

• however, the rate of RRP refill after complete depletion is normal

abnormal synaptic vesicle recycling ( J:74347 )

• after a 40Hz train, the recovery response to RRP depletion is slower than in wild-type cells

• after a 10Hz continuous stimulation in a hypertonic solution and return to normal osmolarity, the recovery response to RRP depletion is slower than in wild-type cells

abnormal excitatory postsynaptic currents ( J:74347 )

• while excitatory postsynaptic currents are normal they only exhibit a small response to treatment with (4beta-phorbol-12,13-dibutyrate) PDBu

• at 10Hz action potential trains, excitatory postsynaptic current depression is enhanced relative to that in wild-type cells

cellular

abnormal synaptic vesicle morphology ( J:74347 )

• probability of vesicle release is increased (10.5%+/-0.8% compared to 6.9%+/-0.6% in wild-type cells)

abnormal synaptic vesicle number ( J:74347 )

• ready releasable pools (RRPs) of vesicles are reduced

• however, the rate of RRP refill after complete depletion is normal