Phenotypes associated with this allele

• Allele Symbol: Ip6k1^em1Seyk
• Allele Name: endonuclease-mediated mutation 1, Seyun Kim
• Allele ID: MGI:6718594
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ip6k1^em1Seyk/Ip6k1^em1Seyk	C57BL/6-Ip6k1^em1Seyk	MGI:6718606

Genotype
MGI:6718606

hm1

• Allelic Composition: Ip6k1^em1Seyk/Ip6k1^em1Seyk
• Genetic Background: C57BL/6-Ip6k1^em1Seyk

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

nervous system

nervous system phenotype ( J:306957 )

N • normal brain and hippocampal morphology at ages 5 and 8 weeks

N • normal paired pulse ratio (PPR) of evoked inhibitory postsynaptic currents (eIPSCs) in hippocampal brain slices

abnormal synaptic vesicle exocytosis ( J:306957 )

• increased presynaptic release probability in hippocampal brain slices

abnormal synaptic vesicle recycling ( J:306957 )

• suppressed vesicle resupply after vesicle exhaustion in hippocampal brain slices

decreased excitatory postsynaptic current amplitude ( J:306957 )

• reduced evoked EPSC (eEPSC) in hippocampal brain slices with 20 and 50 Hz stimulation

• normal miniature EPSC (mEPSC) in hippocampal brain slices

decreased paired-pulse facilitation ( J:306957 )

• reduced paired pulse ratio (PPR) in hippocampal brain slices with higher frequency stimulation

enhanced paired-pulse facilitation ( J:306957 )

• increased paired pulse ratio (PPR) in GABAergic synapses

cellular

abnormal endocytosis ( J:306957 )

• impaired presynaptic vesicle endocytosis in hippocampal brain slices

abnormal synaptic vesicle exocytosis ( J:306957 )

• increased presynaptic release probability in hippocampal brain slices

homeostasis/metabolism

abnormal protein level ( J:306957 )

• severely reduced 5-diphosphoinositol pentakisphosphate (5-IP7) levels in hippocampal primary neurons and hepatocytes