Alkaline phosphatase knock-out mice recapitulate the metabolic and skeletal defects of infantile hypophosphatasia
Alkaline phosphatase knock-out mice recapitulate the metabolic and skeletal defects of infantile hypophosphatasia
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DOI：
10.1359/jbmr.1999.14.12.2015
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发表时间：
1999-12-01
影响因子：
6.2
通讯作者：
Whyte, MP
中科院分区：
文献类型：
--
作者：
Fedde, KN;Blair, L;Whyte, MP
低磷酸酯酶症是一种先天性代谢缺陷，其特征在于碱性磷酸酶的组织非特异性同工酶（TNSALP）的活性缺乏以及由于软骨和骨基质的矿化受损而引起的骨骼疾病。我们研究了两种独立产生的TNSALP基因敲除小鼠品系作为低磷酸酶症的潜在模型。纯合子小鼠（-/-）
Hypophosphatasia is an inborn error of metabolism characterized by deficient activity of the tissue-nonspecific isoenzyme of alkaline phosphatase (TNSALP) and skeletal disease due to impaired mineralization of cartilage and bone matrix. We investigated two independently generated TNSALP gene knock-out mouse strains as potential models for hypophosphatasia. Homozygous mice (-/-) had