Phenotypes associated with this allele

• Allele Symbol: Atp6v0a1^em2Hisa
• Allele Name: endonuclease-mediated mutation 2, Hirotomo Saitsu
• Allele ID: MGI:6711346
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Atp6v0a1^em2Hisa/Atp6v0a1^em2Hisa	involves: ICR	MGI:6711350

Genotype
MGI:6711350

hm1

• Allelic Composition: Atp6v0a1^em2Hisa/Atp6v0a1^em2Hisa
• Genetic Background: involves: ICR

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

mortality/aging

postnatal lethality, complete penetrance ( J:305201 )

• pups die at around 2 weeks of age

growth/size/body

cleft palate ( J:305201 )

• 7% of pups exhibit cleft palate which prevents intake of mothers milk

decreased body weight ( J:305201 )

• pups show reduced body weight at P1 and P10 but not E18.5

craniofacial

cleft palate ( J:305201 )

• 7% of pups exhibit cleft palate which prevents intake of mothers milk

behavior/neurological

absent gastric milk in neonates ( J:305201 )

• pups with cleft palate show absence of gastric milk

impaired righting response ( J:305201 )

• P3 pups take longer to right themselves from a supine position

ataxia ( J:305201 )

• long-surviving pups show ataxia

digestive/alimentary system

cleft palate ( J:305201 )

• 7% of pups exhibit cleft palate which prevents intake of mothers milk

homeostasis/metabolism

impaired autophagy ( J:305201 )

• autophagosome clearance is impaired in pups and undegraded autophagasomes and lysosomes accumulate in cortical and CA3 pyramidal neurons

nervous system

increased neuron apoptosis ( J:305201 )

• pups show increased neuronal cell death in the cortex and hippocampus

decreased brain size ( J:305201 )

• brain is small at P10 but not at E18.5 or P1

abnormal hippocampus CA3 region morphology ( J:305201 )

• mice show abnormal cellular distribution of lysosomes in hippocampal CA3 region and dentate gyrus at P10

abnormal dentate gyrus morphology ( J:305201 )

• mice show abnormal cellular distribution of lysosomes in hippocampal CA3 region and dentate gyrus at P10

abnormal cerebral cortex pyramidal cell morphology ( J:305201 )

• accumulation of autophagosomes in neurites and cell bodies of cortical pyramidal cells in layer V and in CA3 regions

• lysosome accumulation in some pyramidal neurons

• excessive autophagasomes with double membrane, lysosomes with single membrane and rough endoplasmic reticulum in CA3 neurons, but not in cerebellum

decreased cerebral cortex pyramidal cell number ( J:305201 )

• pups show reduced numbers of cortical layer V pyramidal neurons

abnormal cerebellar molecular layer ( J:305201 )

• cerebellums show a reduced molecular layer but have normal lobules I-X

decreased CNS synapse formation ( J:305201 )

• pups show impaired synaptic connectivity in the hippocampus and cerebellum

abnormal excitatory synapse morphology ( J:305201 )

• decrease in excitatory synaptic densities in hippocampal CA3 and cerebellar molecular layers at P10

abnormal synaptic vesicle morphology ( J:305201 )

• lower neurotransmitter (glutamate and GABA) content of synaptic vesicles

abnormal miniature excitatory postsynaptic currents ( J:305201 )

• primary cortical neurons show a larger proportion of small miniature excitatory postsynaptic currents (mEPSCs) than in wild-type neurons, however this is not due to a difference in postsynaptic density of the AMPA-type glutamate receptor generating mEPSCs because the amplitudes of membrane currents evoked by puff application of AMPA are similar to wild-type

• primary cortical neurons show rightward shifts of the distributions of interevent intervals of both mEPSC and mIPSC events, indicating that both mEPSCs and IPSCs occur less frequently in neurons

abnormal miniature inhibitory postsynaptic currents ( J:305201 )

• primary cortical neurons show a larger proportion of small miniature inhibitory postsynaptic currents (mIPSC) than in wild-type neurons

• primary cortical neurons show rightward shifts of the distributions of interevent intervals of both mEPSC and mIPSC events, indicating that both mEPSCs and IPSCs occur less frequently in neurons

cellular

abnormal lysosome morphology ( J:305201 )

• lysosome accumulation in some pyramidal neurons

impaired autophagy ( J:305201 )

• autophagosome clearance is impaired in pups and undegraded autophagasomes and lysosomes accumulate in cortical and CA3 pyramidal neurons

increased neuron apoptosis ( J:305201 )

• pups show increased neuronal cell death in the cortex and hippocampus