AMSH-LP knock out mice cause cystinuria

为了研究AMSH-LP在体内的作用，我们产生了AMSH-LP条件性敲除小鼠。令人惊讶的是，当AMSH-LP在全身中诱导敲除时，在一岁时发生肾积水。病理学上，肾积水小鼠存在尿石症。膀胱结石分析显示结石由胱氨酸组成（95%）。在尿液分析中，胱氨酸、鸟氨酸、赖氨酸和精氨酸的浓度在AMSH-LP敲除小鼠中增加。总之，AMSH基因敲除小鼠与人类胱氨酸尿症相似。

To investigate the role on AMSH-LP in vivo, we generated AMSH-LP conditional knock out mice. Surprisingly, hydronephrosis was occurred in one-year old age when AMSH-LP knock out was induced in whole body. Pathologically, urolithiasis was present in hydronephrotic mice. Bladder stone analysis revealed that the stone was consisted of cystine (95%). In urine analysis, the concentration of cystine, ornithine, lysine, and arginine was increased in AMSH-LP knock out mice. Taken together, AMSH-knock out mice were similar to the cystinuria in human.