Analysis Tools
mortality/aging
| N |
• embryonic lethality seen for Fxn-deficient embryos is recued by transgene expression; normal numbers of offspring are recovered and mice show normal lifespans, surviving to at least 2 years of age
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growth/size/body
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• significant increase is observed from 9 months of age
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nervous system
| N |
• no neuronal histopathology is detected in cerebellar Purkinje cells or granule cells, and no abnormalities in brain or spinal cord regions are seen
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• cerebellum shows increased induction of inflammation in response to lipopolysaccharide (LPS) treatment
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• at 20 months, some axons in lumbar DRG display swelling and secondary demyelination
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• some regions of lumbar DRG are devoid of cytoplasmic organelles at 20 months
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• degenerating large DRG neurons are detected, with evidence of oxidative stress and mitochondrial dysfunction
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• in mice >1 year of age, vacuoles are observed within the DRG in the cervical region
• 16% of cervical DRG sections display vacuoles
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• prominent, giant vacuoles (round, singular or multiple) are observed in large sensory neuronal bodies of DRG in mice between 6 and 12 months, but not in controls; peripheral margination of nucleus in many large neuronal cell bodies with or without vacuoles
• 70% of lumbar DRG sections examined have vacuoles
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• slight decrease in sensory action potential in 20-months old mice is detected, suggesting a mild progressive sensory neuropathy
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• slight decrease in sensory nerve conduction velocity in 20-months old mice is detected, suggesting a mild progressive sensory neuropathy
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behavior/neurological
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• reduced rotarod performance is exhibited by mice from 3 months of age
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• mice show a significant decrease in locomotor activity in the open field from 6 months of age
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cardiovascular system
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• patches of lipofuscin deposition and lysosymes, with accumulation of dispersed free glycogen disrupt regular arrangement of mitochondria within cardiomyocytes at 20 months
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cellular
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• mitochondrial respiratory chain function is decreased compared to controls
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• in 6-9 month old animals, levels of oxidized proteins are increased, most significantly in cerebrum and cerebellum, with other significant increases seen in heart and skeletal muscle
• increased lipid peroxidation is detected in heart samples
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muscle
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• patches of lipofuscin deposition and lysosymes, with accumulation of dispersed free glycogen disrupt regular arrangement of mitochondria within cardiomyocytes at 20 months
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homeostasis/metabolism
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• aconitase activity is decreased to <70% of wild-type levels
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immune system
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• cerebellum shows increased induction of inflammation in response to lipopolysaccharide (LPS) treatment
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Friedreich ataxia | DOID:12705 | J:114840 , J:216422 | ||
