Analysis Tools
behavior/neurological
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• in the fear conditioning test, when mice are re-exposed in the same context 24 hours after conditioning, they show increased freezing like wild-type mice, however contextual freezing performance is decreased
• however, when mice are placed in a new context, mice show the same cued freezing performance as wild-type mice
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• mice show higher latencies to fall from the rotarod, suggesting improved motor coordination
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• in the beam walking test, mice show a higher number of slips but take as much time as controls to cross the beam
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• over 3 sessions of the mouse reaching and grasping test, mutants show decreased accuracy of reaching and grasping suggesting altered precision in movement toward the target and impaired fine-tuned grasping ability
• however, grip strength is normal
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• in the beam walking test, mice show a higher number of slips but take as much time as controls to cross the beam
• automated gait analysis indicates increased right hind paw stance duration and left hind paw propel duration, increased step angle for the forepaws
• older mice (15-31 weeks) have a more affected gait, where all limbs have increased stance and propel duration
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• mice exhibit increased vertical activity in the open field and throughout the testing period of the circadian activity
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• locomotor activity is increased, with mice showing increased distance traveled in the open field arena, increased number of visited arms in the Y maze, and increase in the total number of entries in the chambers in the social recognition test
• however, mice show normal anxiety in the elevated plus maze and open field, normal despair level in the tail suspension test, and normal social interaction
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cellular
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• interneuron migration is altered in the cortex and striatum between E15.5 and P0, with fewer cells in the central parts of the cortical plate and more cells in either the deeper part of the cortex and/or in the upper parts of the cortex suggesting that migrating interneurons accumulate in the upper and deeper parts of the cortical plate
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muscle
muscle spasm
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J:262482
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• 8% of pups present with infantile spasms
• however, mice do not show increased susceptibility to pentylenetetrazole-induced seizures
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nervous system
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• interneuron migration is altered in the cortex and striatum between E15.5 and P0, with fewer cells in the central parts of the cortical plate and more cells in either the deeper part of the cortex and/or in the upper parts of the cortex suggesting that migrating interneurons accumulate in the upper and deeper parts of the cortical plate
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• GABAergic interneuron development is delayed in the forebrain at E15.5, with a decrease in the number of interneurons in the cortex at E15.5 that is partially resolved at P0 and in the adult
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• small 7.2% decrease in the number of Tbr1+ cells (post-mitotic neurons) in the cortex at E15.5, indicating a slight reduction in projecting neuron number
• reduction of choline acetyltransferase+ cells in the striatum
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• the inhibitory/excitatory balance at hippocampal-basolateral amygdala afferents is decreased in adults
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| early infantile epileptic encephalopathy | DOID:0050709 | J:262482 | ||
| syndromic X-linked intellectual disability | DOID:0060309 |
OMIM:PS309510 |
J:262482 | |
