Phenotypes Associated with This Genotype

Genotype
MGI:2654103

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

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

mortality/aging

neonatal lethality, complete penetrance ( J:56513 )

• mice die within a few hours of birth

postnatal lethality, complete penetrance ( J:138035 )

• no surviving offspring are found at P3

behavior/neurological

absent gastric milk in neonates ( J:138035 )

• newborn animals do not feed and stomachs do not display milk spots

weakness ( J:56513 )

• neonatal animals display weakness

nervous system

nervous system phenotype ( J:56513 )

N • normal brain cytoarchitecture and ultrastructure of CNS in newborn animals

abnormal synaptic vesicle number ( J:56513 , J:77339 )

• arrest of synaptic vesicle cycle maturation (J:56513)

• 90% reduction of readily releasable vesicles (J:77339)

abnormal CNS synaptic transmission ( J:138035 )

• excitatory postsynaptic responses induced by hypertonic sucrose application to cultured neurons are decreased compared to controls

• reduction in readily releasable pool of synaptic vesicles in excitatory synapses is observed in culture

decreased neurotransmitter release ( J:77339 )

• 90% reduction of readily releasable vesicles and evoked transmitter release

respiratory system

decreased pulmonary respiratory rate ( J:56513 )

• neonatal animals exhibit reduced breathing rate