A mouse model for spinal muscular atrophy

Hsiu Mei Hsieh-Li, Jan Gowth Chang, Yuh Jyh Jong, Mei Hsiang Wu, Nancy M. Wang, Chang Hai Tsai, Hung Li*

*此作品的通信作者

研究成果: 雜誌貢獻期刊論文同行評審

559 引文 斯高帕斯(Scopus)

摘要

The survival motor neuron gene is present in humans in a telomeric copy, SMN1, and several centromeric copies, SMN2. Homozygous mutation of SMN1 is associated with proximal spinal muscular atrophy (SMA), a severe motor neuron disease characterized by early childhood onset of progressive muscle weakness. To understand the functional role of SMN1 in SMA, we produced mouse lines deficient for mouse Smn and transgenic mouse lines that expressed human SMN2, Smn(-/-) mice died during the peri-implantation stage. In contrast, transgenic mice harbouring SMN2 in the Smn(-/-) background showed pathological changes in the spinal cord and skeletal muscles similar to those of SMA patients. The severity of the pathological changes in these mice correlated with the amount of SMN protein that contained the region encoded by exon 7. Our results demonstrate that SMN2 can partially compensate for lack of SMN1. The variable phenotypes of Smn(-/-) SMN2 mice reflect those seen in SMA patients, providing a mouse model for this disease.

原文英語
頁(從 - 到)66-70
頁數5
期刊Nature Genetics
24
發行號1
DOIs
出版狀態已發佈 - 2000

ASJC Scopus subject areas

  • 遺傳學

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