Summary
The macular mutant mouse was clinically and pathologically examined. The hemizygotes began to show white fur color and curly whiskers around postnatal day 3, then seizures and ataxia around day 8, while the normal littermates did not. The hemizygotes also increased weight gradually from birth to day 9, but then showed weight loss and died around day 15 with severe emaciation. These clinical features resembled those in Menkes kinky hair disease. There were no pathological changes in the cerebral cortex in the hemizygotes on day 7. On day 10, two to three clear vacuoles began to appear in a few neurons in the cerebrum. These neurons with vacuoles increased gradually in number and degenerative neurons were also observed by day 14. Ultrastructurally, they corresponded to giant abnormal mitochondria with an electron-lucent matrix and short peripherally located cristae. Other abnormal mitochondria, which were characterized by an electron-dense matrix with tubular or vesicular cristae, were also observed in the cerebral cortical neurons.
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References
Aguilar MJ, Chadwick DL, Okuyama K, Kamoshita S (1966) Kinky hair disease. I. Clinical and pathological features. J Neuropathol Exp Neurol 25:507–522
Caviness VS (1975) Architectonic map of neocortex of the normal mouse. J Comp Neurol 164:247–264
Danks DM, Campbell PE, Stevens BJ, Mayne V, Cartwright E (1972) Menkes kinky hair sndrome: an inherited defect in copper absorption with widespread effects. Pediatrics 50:188–201
Ghatak NR, Hirano A, Poon TP, French JH (1972) Trichopoliodystrophy. II. Pathological changes in skeletal muscle and nervous system. Arch Neurol 26:60–72
Hirano A, Llena JF, French JH, Ghatak NR (1977) Fine structure of the cerebellar cortex in Menkes kinky hair disease: X-chromosome-linked copper malabsorption. Arch Neurol 34:52–56
Hunt DM (1974) Primary defect in copper transport underlies mottled mutants in the mouse. Nature 249:852–854
Mann JR, Camakaris J, Francis N, Danks D (1981) copper metabolism in mottled mouse (Mus Musculus) mutants studies of blotshy (Moblo) mice and a comparison with brindled (Mobr) mice. Biochem J 196:81–88
Menkes JH, Alter M, Steigleder G, Weakley DR, Sung JH (1962) A sex-linked recessive disorder with retardation of growth, peculiar hair, and focal cerebral and cerebellar degeneration. Pediatrics 29:764–779
Nagara H, Yajima K, Suzuki K (1980) An ultrastructural study on the cerebellum of the brindled mouse. Acta Neuropathol (Berl) 52:41–50
Nishimura M (1975) A new mutant mouse, macular (Ml). Exp Anim (Tokyo) 24:185 (in Japanese)
Ooyama H, Kimura M, Samukawa A, Higa K, Matsumura Y, Nishimura M (1975) A biochemical study of a C3H mutant strain (Ml/y). Seikagaku 51:845 (in Japanese)
Prohaska JR, Wells WW (1975) Copper deficiency in the developing rat brain: evidence for abnormal mitochondria. J Neurochem 25:221–228
Smith RA, Ord MJ (1983) Mitochondrial form and function relationships in vivo: their potential in toxicology and pathology. Int Rev Cytol 83:63–134
Susuki K (1969) Gian hepatic mitochondria: production in mice fed with cuprizone. Science 163:81–82
Yajima K, Suzuki K (1979) Neuronal degeneration in the brain of the brindled mouse. A light microscopic study. J Neuropathol Exp Neurol 38:35–46
Yamano T, Suzuki K (1985) Abnormalities of Purkinje cell arborization in brindled mouse cerebellum: a Golgi study. J Neuropathol Exp Neurol 44:85–96
Yamano T, Paldino AM, Suzuki K (1985) Ultrastructural and morphometric studies of Purkinje cells of brindled mouse after administration of cuppric chloride. J Neuropathol Exp Neurol 44:97–107
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Yamano, T., Shimada, M., Kawasaki, H. et al. Clinico-pathological study on macular mutant mouse. Acta Neuropathol 72, 256–260 (1987). https://doi.org/10.1007/BF00691098
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DOI: https://doi.org/10.1007/BF00691098