Genetic Relationship of Two Mutant Genes Which Producing Three Different Syndromes in the Mouse

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  • 二つの異なる症状を発現する神経系異常突然変異形質の遺伝的相関性
  • フタツ ノ コトナル ショウジョウ オ ハツゲンスル シンケイケイ イジョウ

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We determined that leaner gene (la) is located in the linkage group XVIII and closely linked toEs-1, which is known to be located closely to tottering gene (tg) . Double heterozygote (la/tg) produced by mating betweenlaheterozygote andtgheterozygote showed an intermediate syndrome between those seen in tottering (tg/tg) and leaner (la/la) mice. Both leaner and totterig mice showed neuromuscular disorders, but their clinical and pathological characteristics were different. Leaner mice were found to represent a socalled cerebellar mutant having the reduced size of cerebellum and severe cytoarchitectonic abnormalities with focal losses of Purkinje and granular layer cells. Tottering was, however, another mutation having epileptif orm seizures, and it was characterized pathologically by cellular losses and shrinkage as well as vesiculations of cytoplasmic membranous structures in the cerebellum. The double heterozygote was shown to have both pathologic characteristics seen in each homozygote, and also showed shrinkage of Purkinje cells and vesiculaton of the endoplasmic reticulum and Golgi apparatus. These clinical and pathological findings supported the genetic data suggesting thatlaandtgconstitute an allele.

Journal

  • EXPERIMENTAL ANIMALS

    EXPERIMENTAL ANIMALS 24 (3), 111-118, 1975

    Japanese Association for Laboratory Animal Science

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