Phenotypes associated with this allele

• Allele Symbol: Borcs5^em1Jusb
• Allele Name: endonuclease-mediated mutation 1, Juan S Bonifacino
• Allele ID: MGI:6510587
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Borcs5^em1Jusb/Borcs5^em1Jusb	129X1.B6-Borcs5^em1Jusb	MGI:6510633
hm2	Borcs5^em1Jusb/Borcs5^em1Jusb	C.B6-Borcs5^em1Jusb	MGI:6510636
hm3	Borcs5^em1Jusb/Borcs5^em1Jusb	C57BL/6-Borcs5^em1Jusb	MGI:6510626

Genotype
MGI:6510633

hm1

• Allelic Composition: Borcs5^em1Jusb/Borcs5^em1Jusb
• Genetic Background: 129X1.B6-Borcs5^em1Jusb

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

mortality/aging

perinatal lethality, complete penetrance ( J:299228 )

• the few live-born pups were cyanotic and died within 1 hr after birth from respiratory failure

respiratory system

primary atelectasis ( J:299228 )

Genotype
MGI:6510636

hm2

• Allelic Composition: Borcs5^em1Jusb/Borcs5^em1Jusb
• Genetic Background: C.B6-Borcs5^em1Jusb

mortality/aging

perinatal lethality, complete penetrance ( J:299228 )

• the few live-born pups were cyanotic and died within 1 hr after birth from respiratory failure

respiratory system

primary atelectasis ( J:299228 )

Genotype
MGI:6510626

hm3

• Allelic Composition: Borcs5^em1Jusb/Borcs5^em1Jusb
• Genetic Background: C57BL/6-Borcs5^em1Jusb

nervous system

nervous system phenotype ( J:299228 )

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

N • presence of synaptic vesicle precursor (SVPs) in diaphragm neuromuscular junctions in E18 embryos

abnormal axon morphology ( J:299228 )

• swollen axons in phrenic and spinal nerves of E18 embryos

abnormal neuromuscular synapse morphology ( J:299228 )

• absence of lysosomes from diaphragm neuromuscular junctions (NMJs) in E18 embryos

• presence of synaptic vesicle precursor (SVPs) in diaphragm NMJs in E18 embryos

cellular

abnormal lysosome morphology ( J:299228 )

• 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

perinatal lethality, complete penetrance ( J:299228 )

• 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

primary atelectasis ( J:299228 )