Phenotypes associated with this allele

• Allele Symbol: Pip5k1c^tm1Pdc
• Allele Name: targeted mutation 1, Pietro De Camilli
• Allele ID: MGI:3054978
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pip5k1c^tm1Pdc/Pip5k1c^tm1Pdc	involves: C57BL/6	MGI:3055020
ht2	Pip5k1c^tm1Pdc/Pip5k1c^+	involves: C57BL/6	MGI:3055021

Genotype
MGI:3055020

hm1

• Allelic Composition: Pip5k1c^tm1Pdc/Pip5k1c^tm1Pdc
• Genetic Background: involves: C57BL/6

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

mortality/aging

neonatal lethality, complete penetrance ( J:92666 )

• dies with 24 hours of birth

behavior/neurological

absent gastric milk in neonates ( J:92666 )

• no milk spot in stomach

abnormal locomotor behavior ( J:92666 )

• impaired mobility

nervous system

impaired synaptic plasticity ( J:92666 )

• synapses slower in regaining membrane release competence

• delayed recycling kinetics

• delayed endocytosis

abnormal CNS synaptic transmission ( J:92666 )

• reduced size of readily releasable pool of vesicles in inhibitory synapses

abnormal inhibitory postsynaptic currents ( J:92666 )

• decreased frequency of minature inhibitory post-synaptic currents (mIPSCs) in cortical neurons

abnormal miniature excitatory postsynaptic currents ( J:92666 )

• decreased frequency of spontaneous minature excitatory post-synaptic currents (mEPSCs) in cortical neurons

increased synaptic depression ( J:92666 )

• enhanced early rapid synaptic depression

Genotype
MGI:3055021

ht2

• Allelic Composition: Pip5k1c^tm1Pdc/Pip5k1c⁺
• Genetic Background: involves: C57BL/6

nervous system

abnormal glutamate-mediated receptor currents ( J:92666 )

• reduction of depolarization-dependent glutamate release in synaptosomes