Table 1. Rescue of various phenotypes of the Fig4 null mice by the Tg705 and Tg721 I41T transgenes.
Fig4 genotype | −/− | −/−, Tg705 | −/−, Tg721 | +/+ |
brain transcript | 0 | 2× | 5× | 1× |
FIG4 protein | none | I41T | I41T | wildtype |
survival | 1–2 months | 3–6 months | >2 years | >2 years |
degeneration of cerebral cortex | extensive | intermediate | none | none |
degeneration of DRG | extensive | intermediate | none | none |
degeneration of deep cerebellar nuclei | extensive | intermediate | intermediate | none |
autophagic inclusion bodies | extensive | intermediate | few | none |
hydrocephalus | present | present | present | rare |
coat color | pale | pale | intermediate | wildtype |
nerve conduction velocity | reduced | intermediate | intermediate | normal. |
sciatic nerve myelination | defective | normal | normal | normal |