Analysis Tools
mortality/aging
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• A third of compound heterozygotes die after being injected with a dose of LPS that 100% of wildtype controls survive, and the surviving mutants have delayed weight recovery and failure to thrive
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behavior/neurological
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• increased active awake state, normal awake inactive state, and decreased slow wave sleep
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• although no differences are found in sensory gating during pre-pulse inhibition using auditory stimuli, there is increased latency to withdraw the foot from the hotplate
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• Although spontaneous seizures are not observed, compound heterozygotes have increased pentylenetetrazol-induced seizure numbers and severity and this in increased with a 3% increase in dietary valine
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cellular
microgliosis
(
J:378496
)
|
• normal brain development and no degeneration seen at 18 months of age compared with wildtype, but twice as many microglia are found in the striatum
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• exercise fatigue with elevated post-exercise lactate levels, and abnormal levels of various amino acids, both branched-chain and non-branched chain, in the liver at 3 months
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nervous system
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• Although spontaneous seizures are not observed, compound heterozygotes have increased pentylenetetrazol-induced seizure numbers and severity and this in increased with a 3% increase in dietary valine
|
microgliosis
(
J:378496
)
|
• normal brain development and no degeneration seen at 18 months of age compared with wildtype, but twice as many microglia are found in the striatum
|
|
• normal brain development and no degeneration seen at 18 months of age compared with wildtype, but twice as many microglia are found in the striatum
|
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• increased as measured by EEG at approximately 3.5 month of age
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• increased as measured by EEG at approximately 3.5 month of age
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hematopoietic system
microgliosis
(
J:378496
)
|
• normal brain development and no degeneration seen at 18 months of age compared with wildtype, but twice as many microglia are found in the striatum
|
homeostasis/metabolism
|
• Assessment of liver amino acid content at 3 months of age found only a slight elevation in branched chain amino acids, but a significant elevation in approximately 60% of non-branched chain amino acids
|
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• no differences in anxiety or fear conditioning, but compound heterozygotes display a progressive reduction in latency to fall from a rotarod by the eighth trial, attributed to exercise fatigue, with shortened run distance and higher than normal post-exercise lactate levels
|
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• A third of compound heterozygotes die after being injected with a dose of LPS that 100% of wildtype controls survive, and the surviving mutants have delayed weight recovery and failure to thrive
|
immune system
microgliosis
(
J:378496
)
|
• normal brain development and no degeneration seen at 18 months of age compared with wildtype, but twice as many microglia are found in the striatum
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| mitochondrial short-chain enoyl-CoA hydratase 1 deficiency | DOID:0070540 |
OMIM:616277 |
J:378496 | |
