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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Borcs5em1Jusb
endonuclease-mediated mutation 1, Juan S Bonifacino
MGI:6510587
Summary 3 genotypes


Genotype
MGI:6510633
hm1
Allelic
Composition
Borcs5em1Jusb/Borcs5em1Jusb
Genetic
Background
129X1.B6-Borcs5em1Jusb
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Borcs5em1Jusb mutation (0 available); any Borcs5 mutation (22 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• the few live-born pups were cyanotic and died within 1 hr after birth from respiratory failure

respiratory system




Genotype
MGI:6510636
hm2
Allelic
Composition
Borcs5em1Jusb/Borcs5em1Jusb
Genetic
Background
C.B6-Borcs5em1Jusb
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Borcs5em1Jusb mutation (0 available); any Borcs5 mutation (22 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• the few live-born pups were cyanotic and died within 1 hr after birth from respiratory failure

respiratory system




Genotype
MGI:6510626
hm3
Allelic
Composition
Borcs5em1Jusb/Borcs5em1Jusb
Genetic
Background
C57BL/6-Borcs5em1Jusb
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Borcs5em1Jusb mutation (0 available); any Borcs5 mutation (22 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
N
• normal ante- and retrograde axonal transport of synaptic vesicle precursors (SVPs) in E18 embryo neurons in vitro; presence of SVPs in corpus callosum axons and hippocampus molecular layer axons and dendrites in E18 embryos
• presence of synaptic vesicle precursor (SVPs) in diaphragm neuromuscular junctions in E18 embryos
• swollen axons in phrenic and spinal nerves of E18 embryos
• absence of lysosomes from diaphragm neuromuscular junctions (NMJs) in E18 embryos
• presence of synaptic vesicle precursor (SVPs) in diaphragm NMJs in E18 embryos

cellular
• no axonal transport of lysosomes in E18 embryo neurons in vitro; lysosomes mostly absent from corpus callosum axons and hippocampus molecular layer axons and dendrites in E18 embryos
• absence of lysosomes from diaphragm neuromuscular junctions (NMJs) in E18 embryos
• normal presence of lysosomes in neuronal cell bodies in hippocampus pyramidal layer and CA1 and CA3 regions in E18 embryos

mortality/aging
• the few live-born pups were cyanotic and died within 1 hr after birth from respiratory failure
• normal Mendelian ratios at E18 stage

respiratory system





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last database update
05/14/2024
MGI 6.23
The Jackson Laboratory