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Phenotypes Associated with This Genotype
Genotype
MGI:4452482
Allelic
Composition
C1qatm1Mjw/C1qatm1Mjw
Genetic
Background
involves: 129S/SvEv
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
C1qatm1Mjw mutation (1 available); any C1qa mutation (24 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• 9 of 10 mice exhibit stimuli evoked epileptiform activity, including all-or-none polyphasic events of variable form and latency lasting 150-400 ms that are associated with bursts of action potentials, unlike similarly treated wild-type mice
• 17 of 23 cortical layer V slices exhibit spontaneous epileptiform events with polyphasic morphology and duration similarly to the evoked epileptiform potentials unlike wild-type slices
• epileptiform activity is widespread in the cortex
• however, epileptiform activity is blocked by stimuli 2 or more times threshold
• mice exhibit spontaneous atypical absence seizures consisting of behavioral arrest with bihemispheric irregular electroencephalogram spike and slow wave activity lasting from 5 to 60 s unlike wild-type mice
• however, treatment with ethosuximide shortens seizure duration
• layer V pyramidal neurons exhibit a greater number of presynaptic excitatory synapses in different layers of the cortex compared with wild-type mice without increased strength of connectivity
• axonal bouton density is increased in pyramidal neurons compared to in wild-type cells
• the ratio of small to big boutons is increased compared to in wild-type mice
• whole cell recordings reveal spontaneous prolonged bursts of polysynaptic excitatory postsynaptic currents (EPSCs) unlike in wild-type cells
• EPSC maps are larger with a larger hot spot ratio than in wild-type mice
• however, EPSC amplitude is normal
• in the presence of tetrodotoxin, the frequency of spontaneous EPSCs in layer V pyramidal cells is higher than in wild-type mice
• whole cell recordings reveal spontaneous prolonged bursts of polysynaptic inhibitory postsynaptic currents (IPSCs) unlike in wild-type cells
• however, spontaneous IPSCs and miniature IPSCs frequencies are normal
• in the presence of tetrodotoxin, the frequency of miniature excitatory postsynaptic currents in layer V pyramidal cells is higher than in wild-type mice

behavior/neurological
• 9 of 10 mice exhibit stimuli evoked epileptiform activity, including all-or-none polyphasic events of variable form and latency lasting 150-400 ms that are associated with bursts of action potentials, unlike similarly treated wild-type mice
• 17 of 23 cortical layer V slices exhibit spontaneous epileptiform events with polyphasic morphology and duration similarly to the evoked epileptiform potentials unlike wild-type slices
• epileptiform activity is widespread in the cortex
• however, epileptiform activity is blocked by stimuli 2 or more times threshold
• mice exhibit spontaneous atypical absence seizures consisting of behavioral arrest with bihemispheric irregular electroencephalogram spike and slow wave activity lasting from 5 to 60 s unlike wild-type mice
• however, treatment with ethosuximide shortens seizure duration

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
epilepsy DOID:1826 J:159281


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
12/10/2024
MGI 6.24
The Jackson Laboratory