Analysis Tools
mortality/aging
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• less than 15% of males live to 8 weeks of age
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• mice are born at a lower frequency than expected (36% versus 64% wild-type) indicating partial prental lethality of males
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behavior/neurological
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• mice show an impairment of balance in the beam walking test
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• mice show an impairment of balance and coordination in the beam walking test
• rotarod performance is impaired
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• latency to fall from a wire cage top is decreased and grip strength is decreased
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• P21 mice exhibit increased susceptibility to audiogenic seizures (bell producing 120-125 dB sosund), with increased incidence and severity of audiogenic seizures
• however, no impairment is seen in optomotor response, hot plate, or scent habituation tests
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craniofacial
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• males exhibit craniofacial dysmorphology, with a difference in global skull shape based on EDMA
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• reduction in skull length at 6 weeks of age
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• mice often have domed heads, typically associated with hydrocephalus
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short snout
(
J:338313
)
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• reduction in nose length at 6 weeks of age
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growth/size/body
short snout
(
J:338313
)
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• reduction in nose length at 6 weeks of age
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nervous system
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• P21 mice exhibit increased susceptibility to audiogenic seizures (bell producing 120-125 dB sosund), with increased incidence and severity of audiogenic seizures
• however, no impairment is seen in optomotor response, hot plate, or scent habituation tests
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hydrocephaly
(
J:338313
)
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• 6-week-old and 24-week-old mice have moderate hydrocephalus, with 75% incidence at 6 weeks and 100% incidence at 24 weeks
• however, no evidence of aqueduct blockage or abnormal morphology of cilia on ependymal cells lining the dilated ventricles, or motile ciliary dysfunction in the respiratory system
• no evidence of inflammation in the brain, no changes in central nervous system myelination and no cell loss or altered lamination in the visual, somatosensory, or somatomotor cortex
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• patent aqueducts
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• cultured cortical neurons show defects in dendritic arborization, with reduced dendrite branch points, dendrite branch levels, and total dendritic lengths that lead to a large reduction in dendritic arbor complexity
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• mice show increased delta power and epileptiform activity on the EEG; mice have an increased percentage of time spent exhibiting spiking events during the dark phase
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skeleton
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• reduction in skull length at 6 weeks of age
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• mice often have domed heads, typically associated with hydrocephalus
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vision/eye
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• increase in interorbital distance at 6 weeks of age
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| syndromic X-linked intellectual developmental disorder bain type | DOID:0070538 |
OMIM:300986 |
J:338313 | |
