Analysis Tools
mortality/aging
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• recovery rate is ~15-16% compared to the expected 25%
• using IVF recovery rate is only ~14% at E4, indicating early death of zygotes
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growth/size/body
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• shorter and flatter at P30
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short snout
(
J:345229
)
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• shorter and flatter at P30
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• reduced size and vital organs (brain, heart, lung, kidney, and liver) are smaller and lighter
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• weight is reduced by ~15%
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• at E14.5 and E18.5
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behavior/neurological
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• significant learning deficits in a Morris water maze and Barnes maze
• however, performance in a new escape box is similar to controls indicating cognitive flexibility is intact
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• impaired performance in a Y-maze task
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• in an elevated plus maze test spending more time in the open arm and center of the maze and entering the open arm more frequently
• spend more time in the light compartment in an light-dark test
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• increase in the number of slips in a beam walking test, indicating impaired fine motor control
• however, performance in a Rotarod assay is similar to controls, indicating gross motor coordination is not significantly impaired and no defect in grip strength is detected
• impaired performance in a pasta eating assay with increased time to consume a piece of pasta, more frequent drops, and more grip adjustments
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• decreased stride length in the hind paws and concomitant decrease in propel time of the forepaws
• however, overall gait and gross motor performance are similar to controls
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• increase in total distance traveled in an open field
• increase in distance traveled in an elevated plus maze and light-dark test
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nervous system
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• decrease in overall thickness at P30
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• reduced ventricular zone thickness at E18.5
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• smaller and lighter
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• decrease in overall thickness at P30
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• in an in vitro assay using cells from E18.5 embryos
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• 32% shorter primary axons in neurons from E18.5 embryos
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• no change in dendritic spine density but a significant decrease in mature spines at P30
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• decrease in SYN1-PSD-95 puncta after 14 days in culture
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• dysregulation of genes and proteins associated with transcription, cell cycle, cell death, and cognitive function in the brain
• increase in markers for DNA damage in embryonic brain lysates at E14.5 and E18.5
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• in culture, he distance neurons migrate out of a seeded neurosphere is reduced
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• at division 14 in culture neurons from E18.5 embryos show reduced neural network activity with little to no network bursts and increased random spike frequency
• in addition overall eletrical activity is significantly decreased in cultured neurons with lower mean firing rate, mean burst rate, and mean burst spike rate
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• increase in the percentage of apoptotic cells in primary culture
• increase in the number of cells in G2/M and concomitant decrease in the number in G1 phase indicating a delay in the cell cycle
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craniofacial
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• shorter and flatter at P30
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short snout
(
J:345229
)
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• shorter and flatter at P30
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cardiovascular system
small heart
(
J:345229
)
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• smaller and lighter
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renal/urinary system
small kidney
(
J:345229
)
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• smaller and lighter
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liver/biliary system
small liver
(
J:345229
)
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• smaller and lighter
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respiratory system
small lung
(
J:345229
)
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• smaller and lighter
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cellular
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• increase in the number of cells in G2/M and concomitant decrease in the number in G1 phase indicating a delay in the cell cycle
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• increase in the percentage of apoptotic neural stem cells in primary culture
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• in an in vitro assay using cells from E18.5 embryos
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• in culture, he distance neurons migrate out of a seeded neurosphere is reduced
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• increase in markers for DNA damage in embryonic brain lysates at E14.5 and E18.5
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| X-linked intellectual disability-short stature-overweight syndrome | DOID:0112056 |
OMIM:300957 |
J:345229 | |
