Light and electron microscopic study on cerebellar cortex of macular mutant mouse as a model of Menkes kinky hair disease.

The macular mouse is a mutant mouse, the hemizygotes of which show clinical and biochemical abnormalities similar to those in Menkes kinky hair disease (MKHD) in humans. The cerebellar cortex of this mutant suckling mouse was examined by light and electron microscopy. In hemizygotes, the Purkinje cells showed a delay in the maturation of dendrites and somatic spines. Somal sprouts, abnormal mitochondria, and filamentous cytoplasmic inclusions were observed on these cells on day 13. Axonal swellings, containing abnormal mitochondrias were also seen in the inner granular layer. These findings correspond with those of MKHD in humans and those of the brindled mouse, another model mouse of MKHD.