Analysis Tools|
Allele Symbol Allele Name Allele ID |
Iqsec2em1Frk endonuclease-mediated mutation 1, Wayne N Frankel MGI:6392157 |
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| Summary |
2 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice exhibit an elevated seizure threshold to 6 Hz electrically-induced limbic seizures
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• mice exhibit an elevated seizure threshold to 6 Hz electrically-induced limbic seizures
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice exhibit a median lifespan of 95 days and do not survive past 187 days; mice die of lethal seizure
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• pups grow more slowly than wild-type pups, first apparent at P8, and adult growth does not catch up to the growth seen in wild-type mice
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• mice spend more time in the closed arms and less time in the open arms of the elevated-plus maze, indicating increased anxiety in adults
• however, 8-12 week-old mice show no difference in time spent in the center of the open field arena is seen
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• mice show increased ambulatory activity in the open field arena in adult 8-12 week-old mice
• however, no difference in time spent in the center of the open field arena is seen and pups show normal righting reflex
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• males do not successfully mate despite having viable sperm
• adult males emit fewer ultrasonic vocalizations when paired with an unfamiliar estrous female, indicating impaired social male-female interaction
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• adult males emit fewer ultrasonic vocalizations when paired with an unfamiliar estrous female, indicating impaired social male-female interaction
• however, pups show normal separation-induced ultrasonic vocalization
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• mice exhibit increased threshold to 6 Hz electrically-induced limbic seizures
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• mice exhibit decreased susceptibility to pentylenetetrazole (PTZ) induced generalized tonic-clonic seizures
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• mice exhibit lethal spontaneous seizures (generalized tonic-clonic and maximal tonic seizures)
• however, 9 week old mice show no indication of epileptic activity, indicating that mice do not show recurrent (non-lethal) spontaneous seizures, and mice do not show evidence of seizure activity during handling
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• mice exhibit increased threshold to 6 Hz electrically-induced limbic seizures
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• mice exhibit decreased susceptibility to pentylenetetrazole (PTZ) induced generalized tonic-clonic seizures
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• mice exhibit lethal spontaneous seizures (generalized tonic-clonic and maximal tonic seizures)
• however, 9 week old mice show no indication of epileptic activity, indicating that mice do not show recurrent (non-lethal) spontaneous seizures, and mice do not show evidence of seizure activity during handling
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• mice show an increase in parvalbumin-expressing interneurons in adult hippocampus
• however, dentate gyrus thickness is normal
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• reactive astrogliosis is seen in hippocampus at P28
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• GABAergic neurons exhibit a more hyperpolarized resting membrane potential and a lower input resistance with a higher membrane capacitance
• GABAergic neurons fire action potentials with narrower half-widths and larger afterhyperpolarizations
• however, glutamatergic neurons show no differences in passive or active membrane properties
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• hippocampal neurons show an increase in mEPSC frequency and amplitude onto GABAergic neurons
• the average amplitude of the EPSCs evoked onto paired GABAergic neurons is increased
• however, no difference in hippocampal neuron mEPSC frequency or amplitude onto glutamatergic neurons and no differences in mIPSCs onto glutamatergic or GABAergic neurons are seen
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| non-syndromic X-linked intellectual disability | DOID:0050776 |
OMIM:300716 OMIM:PS309530 |
J:284762 | |
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 |
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