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 6 months of age
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• increase in weight from 6 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
• no sensory nerve or motor nerve conduction changes are seen in 9-14 month old mutants
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• peripheral margination of the nucleus in many large neuronal cell bodies of the dorsal root ganglia, suggesting central chromatolysis
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• between 6 months to 1 year, vacuoles are seen only in the dorsal root ganglia of the lumbar region, but after 1 year, vacuoles are seen within dorsal root ganglia of the cervical region, indicating a distal-to-proximal dying back neurodegeneration
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• prominent, giant vacuoles (round, singular or multiple) are observed in large sensory neuronal bodies of dorsal root ganglia; peripheral margination of nucleus in many large neuronal cell bodies with or without vacuoles
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behavior/neurological
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• reduced performance on an accelerating rotarod from 3 months of age
• however, overt ataxia is not seen up to 2 years of age
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• forelimb grip strength is decreased from 9 months of age
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• mice show a decreased trend in locomotor activity in the open field from 6 months of age and a significant difference by 1 year of age
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cardiovascular system
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• iron deposition within the heart of 14-18 month old mice
• however, mice do not exhibit an increase in heart weight to body weight ratio, myofibril disarray, or fibrosis
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cellular
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• in 6-9 month old mice, oxidized proteins are increased in the cerebrum, cerebellum, heart, and skeletal muscle, with the most prominent increase in the cerebrum and cerebellum
• increase in lipid peroxidation in the heart
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homeostasis/metabolism
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• iron deposition within the heart of 14-18 month old mice
• however, mice do not exhibit an increase in heart weight to body weight ratio, myofibril disarray, or fibrosis
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• level of the antioxidant enzyme CuZnSOD is decreased in the skeletal muscle by 40%
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Friedreich ataxia | DOID:12705 | J:114840 | ||
