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hm1
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Fkbp8tm1Kei/Fkbp8tm1Kei
involves: 129/Sv |
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• proteasome activity in the membrane fraction of mutant MEFs is reduced compared to wild-type MEFs
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hm2
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Fkbp8tm1Kei/Fkbp8tm1Kei
involves: 129 * C57BL/6J |
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• mice die soon after birth and are all dead by P1.5
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• neuron progenitors are abnormally distributed
• however, proliferation rates of neurons is normal
• at E14.5, axons of betaIII-tubulin+ neurons in the spinal cord project transversely over the midline instead of extending along the same side of the neural tube as in wild-type mice
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• at E16.5, the neural tube is deformed with a thin epithelium and dilated central canal at the cervical level but is reduced in size at the sacral level
• the brain neural tube is malformed with enlarged lumen and aggregated neuroepithelium
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• at E13.5, mice exhibit an aggregation of cells in the neuroepithelium
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• in all mice
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• the brain cortex is shrunken medially with dorsal overlap and cells in the brain are highly disorganized
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• in some mice
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• the neuroepithelium of the cerebrum is disorganized and exhibits an increase in neuron density compared to in wild-type mice
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• the cerebellum appears immature and has fewer grooves than in wild-type mice
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• at E13.5, ganglionic eminences are dysplastic
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• dorsal root ganglia are rudimentary especially at the lumber-sacral level due to increased apoptosis
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• the lumbar vertebra exhibits open vertebrae with large vertebral bodies, short but stretched vertebral arches and crushed spinal cord
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• at birth
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• in some mice
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• at birth
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• at birth
|
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• at birth
|
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• at E16.5, the neural tube is deformed with a thin epithelium and dilated central canal at the cervical level but is reduced in size at the sacral level
• the brain neural tube is malformed with enlarged lumen and aggregated neuroepithelium
|
|
• at E13.5, mice exhibit an aggregation of cells in the neuroepithelium
|
|
• in all mice
|
|
• neuron progenitors are abnormally distributed
• however, proliferation rates of neurons is normal
• at E14.5, axons of betaIII-tubulin+ neurons in the spinal cord project transversely over the midline instead of extending along the same side of the neural tube as in wild-type mice
|
Mouse Models of Human Disease |
OMIM ID | Ref(s) | |
| Clubfoot, Congenital, with or without Deficiency of Long Bones and/or Mirror-Image Polydactyly; CCF | 119800 | J:132961 | |