Figure 3.

Mutant AIF protein does not cause cerebellar degeneration but induces peripheral neuropathy. (A) Representative images of Nissl-stained sagittal brain sections and (B) corresponding quantification of the cerebellar size at 3 and 6 months of age (scale bar = 500 μm, mean ± SEM, Student's t-test, n = 3–4 per genotype, ***p < 0.001, **p < 0.01). (C) Representative images of cerebellar brain sections double-immunostained with calbindin (CALB1; red) and IBA1 (green). At 6 months of age, Hq mutant mice showed Purkinje cell degeneration and greatly enhanced IBA1 immunoreactivity. Scale bar = 100 μm. (D–E) Immunoblot analyses were performed using cerebella from wt, Aifm1 (R200 del) KI and Hq mutant mice at (D) 3 and (E) 6 months of age. Densitometry is relative to wt littermates and reported as mean ± SEM, Student's t-test, n = 4–9 per genotype, ***p < 0.001, **p < 0.01, *p < 0.05). Color code is: black = wt (for KI); red = KI; dark grey = wt (for Hq); green = Hq. (F–G) Cross-sections of the sciatic nerve from (F) 6 and (G) 12 month-old animals were stained with antibodies against Myelin Basic Protein (MBP, green) and Neurofilament (pan axonal, red). Scale bar = 50 μm.