Analysis Tools
mortality/aging
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• most pups are found dead 12-48 hours after birth
• only 22% of pups survive longer than 3 days
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growth/size/body
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• 10% reduction in adult body weight
• however, mice have normal body length and brain size and embryo size is normal
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• impaired postnatal growth
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• mice show a delay in weight gain from week 3 until adulthood
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behavior/neurological
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• mice show normal auditory, visual and olfactory capabilities, normal motor coordination on the rotarod and no depressive-like behaviors
• mice show normal preference for investigating an unfamiliar object in a novel object recognition test, no abnormalities in startle response or sensory gating
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• males spend slightly less time investigating the empty cages than wild-type mice, which may indicate altered exploratory behavior
• mice spend more time in the locomotor cell
• males spend less time in a closed arm of the elevated plus maze than controls
• however, the number of entries into each arm of the elevated plus maze is unaffected
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• in the Y-maze test, mice do not show the typical increase in time spent exploring a novel arm, indicating impaired short-term memory
• however, mice show normal long-term memory in the Morris water maze
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• little or no milk is present in the stomach of dead mutants
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• females, but not males, show decreased grooming
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• mice show hyperactivity during both trials of the three-chamber social interaction test
• males show faster time and shorter swim distances in the Morris water maze, most likely due to their hyperactivity
• treatment with methylphenidate, a psychostimulant drug, does not decrease hyperactivity in mutants
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• mice show increased rearing in the locomoter cell and in a sawdust-lined, plexiglass box
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• in the locomotor cell, mice travel 50% further, spend less time resting, and show a consistent increase in velocity
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• mice show an increase in stereotypic episodes
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• mice spend less time interacting with the intruder mouse in the second trial of the three-chamber social interaction test, while showing no difference in interaction time with the empty cage
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• males presented with pheromones from estrus or proestrous females show a trend towards reduced number of calls, a longer latency to call and longer latency to investigate the cotton bud, and increased peak frequency of calls
• mice exhibit altered ultrasonic vocalization, showing shorter call durations, emitting a higher percentage of short calls and lower percentage of complex or composite longer calls
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nervous system
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• mice show an increase in PV-positive interneurons in the somatosensory cortex
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• increase in total PV-positive cells in the hippocampus
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• increase in cellularity of layers IV and VI of the neocortex
• however, cortical cell survival and proliferation is normal at E18.5
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| attention deficit hyperactivity disorder | DOID:1094 |
OMIM:143465 OMIM:608903 OMIM:608904 OMIM:608905 OMIM:608906 OMIM:612311 OMIM:612312 |
J:231288 | |
| autism spectrum disorder | DOID:0060041 | J:231288 | ||
