Phenotypes associated with this allele

• Allele Symbol: Ecpas^em1Plch
• Allele Name: endonuclease-mediated mutation 1, Pei-Lin Cheng
• Allele ID: MGI:6386762
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ecpas^em1Plch/Ecpas^em1Plch	C57BL/6-Ecpas^em1Plch	MGI:6386768

Genotype
MGI:6386768

hm1

• Allelic Composition: Ecpas^em1Plch/Ecpas^em1Plch
• Genetic Background: C57BL/6-Ecpas^em1Plch

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

nervous system

increased susceptibility to pharmacologically induced seizures ( J:282974 )

• mice exhibit increased susceptibility to flurothyl or pentylenetetrazole (PTZ) induced seizures, showing more rapid first myoclonic jerk and onset of generalized seizure, higher levels of symptom severity and progression, and increased mortality rate

• pups administered the NKCC1 inhibitor bumetanide (BUM) from P7-P14 ameliorates the effects of the hypersusceptibility to both flurothyl-induced and PTZ-induced seizures while BUM administration at P50 is less effective

abnormal neuron morphology ( J:282974 )

• immature neurons exhibit aberrant accumulation of the Na-K-Cl cotransporter in the somatodendritic compartment

abnormal axon initial segment morphology ( J:282974 )

• immature neurons exhibit aberrant accumulation of the Na-K-Cl cotransporter at the axon initial segment

• neurons exhibit accelerated axon initial segment developmental positioning

abnormal GABAergic neuron physiology ( J:282974 )

• maturing hippocampal and cortical neurons exhibit a delayed GABAergic excitation-to-inhibition switch (GABAergic excitation is prolonged) and the percentage of neurons showing excitatory GABA transmission is higher than in wild-type neurons

abnormal GABA-mediated receptor currents ( J:282974 )

• maturing cortical neurons exhibit an altered GABA-induced calcium response, with neurons showing a higher calcium influx in response to GABA stimulus, indicating hyperresponsiveness to excitatory GABAergic transmission

behavior/neurological

increased susceptibility to pharmacologically induced seizures ( J:282974 )

• mice exhibit increased susceptibility to flurothyl or pentylenetetrazole (PTZ) induced seizures, showing more rapid first myoclonic jerk and onset of generalized seizure, higher levels of symptom severity and progression, and increased mortality rate

• pups administered the NKCC1 inhibitor bumetanide (BUM) from P7-P14 ameliorates the effects of the hypersusceptibility to both flurothyl-induced and PTZ-induced seizures while BUM administration at P50 is less effective