Tardbp (TAR DNA binding protein)

基因基本信息

Tardbp 基因表型（MGI）

Homozygous deficient mice display embryonic lethality before somite formation with impaired inner cell mass proliferation. Substitutions in RRM2 or low-complexity (LCD) domains affect mRNA splicing. Homozygosity for these mutations is embryonic lethal on B6 strain backgrounds. The LCD mutation leads to an adult-onset neuromuscular phenotype accompanied by motor neuron loss and neurodegenerative changes on B6-D2 background. Heterozygosity for p.N267S mutation affects neural stem cells and leads to neurological defects.

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