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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Unc13btm2Bros
targeted mutation 2, Nils Brose
MGI:2449706
Summary 4 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Unc13btm2Bros/Unc13btm2Bros Not Specified MGI:2654055
cx2
Unc13atm1Bros/Unc13atm1Bros
Unc13btm2Bros/Unc13btm2Bros
involves: 129 MGI:2654056
cx3
Unc13atm2Bros/Unc13a+
Unc13btm2Bros/Unc13btm2Bros
Not Specified MGI:3718430
cx4
Unc13atm2Bros/Unc13atm2Bros
Unc13btm2Bros/Unc13btm2Bros
Not Specified MGI:3718432


Genotype
MGI:2654055
hm1
Allelic
Composition
Unc13btm2Bros/Unc13btm2Bros
Genetic
Background
Not Specified
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Unc13btm2Bros mutation (1 available); any Unc13b mutation (119 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
N
• mice exhibit normal photoreceptor ribbon synaptic transmission
• in peak-to-peak amplitudes and frequency of oscillatory potentials is slightly reduced compared to in wild-type mice
• b-wave amplitude is very slightly reduced in photopic conditions
• b-wave amplitude is slightly reduced in scotopic conditions
• however, b-wave implicit time is normal

nervous system
N
• normal cytoarchitecture and ultrastructure of the CNS
• observed in mice older than 12 months old
• photoreceptor ribbon synapses contain slightly more docked synaptic vesicles than in wild-type mice

behavior/neurological
• observed in mice older than 12 months old




Genotype
MGI:2654056
cx2
Allelic
Composition
Unc13atm1Bros/Unc13atm1Bros
Unc13btm2Bros/Unc13btm2Bros
Genetic
Background
involves: 129
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Unc13atm1Bros mutation (1 available); any Unc13a mutation (74 available)
Unc13btm2Bros mutation (1 available); any Unc13b mutation (119 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• all mutants born alive, die within 1 hour after birth

nervous system
• 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
• complete loss of fusion competent vesicles
• flash-response is abolished in neurons compared with control mice
• spontaneous, action potential evoked, and hypertonically evoked vesicular release (synaptic transmission) are abolished
• excitatory postsynaptic current induced by calcium uncaging is abolished compared to in control mice




Genotype
MGI:3718430
cx3
Allelic
Composition
Unc13atm2Bros/Unc13a+
Unc13btm2Bros/Unc13btm2Bros
Genetic
Background
Not Specified
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Unc13atm2Bros mutation (0 available); any Unc13a mutation (74 available)
Unc13btm2Bros mutation (1 available); any Unc13b mutation (119 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• spontaneous release rates are intermediate and are increased by PDBu (4beta-phorbol-12,13-dibutyrate) treatment
• the number of fusion-competent vesicles is reduced to 2763+/-305 vesicles compared to 4109+/-722 vesicles in wild-type mice
• at 10Hz action potential trains, excitatory postsynaptic current depression is enhanced relative to that in wild-type cells but not as much as in homozygotes and further enhanced by treatment with PDBu (4beta-phorbol-12,13-dibutyrate)




Genotype
MGI:3718432
cx4
Allelic
Composition
Unc13atm2Bros/Unc13atm2Bros
Unc13btm2Bros/Unc13btm2Bros
Genetic
Background
Not Specified
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Unc13atm2Bros mutation (0 available); any Unc13a mutation (74 available)
Unc13btm2Bros mutation (1 available); any Unc13b mutation (119 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• the rate of vesicle release is doubled compared to in wild-type cells for all doses tested
• spontaneous release rates are increased and are not effected by PDBu (4beta-phorbol-12,13-dibutyrate) treatment
• the probability of vesicle release is increased relative to in wild-type cells
• the number of fusion-competent vesicles is reduced to 2299+/-300 vesicles compared to 4109+/-722 vesicles in wild-type mice
• following stimulation with 250mM sucrose, the number of vesicles released is greater (2000+/-460 vesicles) than in wild-type cells (1100+/-300 vesicles)
• at 10Hz action potential trains, excitatory postsynaptic current depression is enhanced relative to that in wild-type cells and is further enhanced by treatment with PDBu by (4beta-phorbol-12,13-dibutyrate)
• the absolute frequency of miniature excitory postsynaptic currents is more than doubled that in wild-type cells but similar to that in phorbol ester-treated wild-type cells
• long term potential is enhanced relative to in wild-type cells but similar to in that in wild-type cells treated with PDBu (4beta-phorbol-12,13-dibutyrate)





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last database update
04/09/2024
MGI 6.23
The Jackson Laboratory