LRP5
表型
转基因小鼠
突变
转基因
生物
遗传学
Wnt信号通路
基因
作者
Xueting Wang,Hui Zhang,Ling Hu,Jin He,Qifeng Jiang,Lingfei Ren,Yu Ke,Mengdie Fu,Zhikun Li,Zhixu He,Junhao Zhu,Ying Wang,Zhiwei Jiang,Guoli Yang
出处
期刊:Bone
[Elsevier BV]
日期:2024-06-21
卷期号:187: 117172-117172
标识
DOI:10.1016/j.bone.2024.117172
摘要
Gain-of-function mutations in the low-density lipoprotein receptor-related protein 5 (LRP5) can cause high-bone-mass (HBM) phenotype, with 19 identified mutations so far. The A242T mutation in LRP5 has been found in 9 families, making it one of the most prevalent mutations. However, the correlation between the A242T mutation and HBM phenotype remains unverified in animal models. This study aimed to investigate the bone properties in a new transgenic mouse model carrying the LRP5 A241T missense mutation, equivalent to A242T in humans. Heterozygous Lrp5
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