Phenotypes associated with this allele

• Allele Symbol: Cc2d1a^tm1Zjc
• Allele Name: targeted mutation 1, Zhijian Chen
• Allele ID: MGI:3829256
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Cc2d1a^tm1Zjc/Cc2d1a^tm1Zjc	involves: 129S/SvEv * C57BL/6	MGI:5294953

Genotype
MGI:5294953

hm1

• Allelic Composition: Cc2d1a^tm1Zjc/Cc2d1a^tm1Zjc
• Genetic Background: involves: 129S/SvEv * C57BL/6

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

mortality/aging

perinatal lethality, complete penetrance ( J:177407 )

• mice die within a few minutes of birth, apparently due to respiratory failure

nervous system

abnormal synaptic vesicle recycling ( J:177407 )

• after synaptic stimulation, cultured neurons exhibit an increase in the pace of synaptic vesicle endocytosis as measured by an accelerated decline in the fluorescence signal, synaptophysinpH1uorin

abnormal excitatory postsynaptic currents ( J:177407 )

• EPSCs induced by field stimulation are 2 fold larger than controls in 14 day in vitro (DIV) cultured cortical pyramidal neuron synapses

abnormal inhibitory postsynaptic currents ( J:177407 )

• 7 day in vitro (DIV) cultured cortical pyramidal neuron synapses are more responsive to action potential stimulation than controls, however, by 21 DIV, IPSC response is similar to controls

abnormal miniature inhibitory postsynaptic currents ( J:177407 )

increased miniature inhibitory postsynaptic current amplitude ( J:177407 )

• miniature IPSC amplitudes exhibit a small but significant increase in 21 DIV neuron cultures, however, frequencies are similar to controls

abnormal miniature inhibitory postsynaptic current frequency ( J:177407 )

• miniature IPSC frequencies measured in 14 DIV cultures lag behind controls, although amplitudes are similar to controls