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Genome analysis of novel Tabby mutant mice in RIKEN BRC

机译:RIKEN BRC中新型Tabby突变小鼠的基因组分析

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[Purpose] The Tabby mutant mouse shows loss of hair, sweat glands, and abnormalities in teeth formation as distinctive phenotypes by a mutation of ectodysplasin-A (Eda) gene on the X Chromosome. In human, point mutations, miss sense mutations, nonsense mutations and deletions of the Eda gene are known to cause anhidrotic ectodermal dysplasia. Therefore, the Tabby mutant mouse is regarded as a suitable model for human cases. We analyzed the genome structure of the Eda genes in independently isolated Tabby, Ta-Pas and Ta-Rbrc mutant mice in comparison to the Tabby mutant (Ta) reported previously by others.
机译:[目的]通过X染色体上的ectodysplasin-A(Eda)基因突变,Tabby突变小鼠表现出脱发,汗腺和牙齿形成异常作为独特的表型。在人类中,已知点突变,错义突变,无义突变和Eda基因的缺失会导致无角质外胚层发育不良。因此,Tabby突变小鼠被认为是适合人类病例的模型。与其他人先前报道的Tabby突变体(Ta)​​相比,我们分析了独立分离的Tabby,Ta-Pas和Ta-Rbrc突变体小鼠中Eda基因的基因组结构。

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