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C3H/HeJ 近交系小鼠是一种先天性膀胱输尿管反流模型,其易感性位于 12 号染色体上。

The C3H/HeJ inbred mouse is a model of vesico-ureteric reflux with a susceptibility locus on chromosome 12.

机构信息

Department of Pediatrics, McGill University, Research Institute of the McGill University Health Center, Montreal, Quebec, Canada.

出版信息

Kidney Int. 2010 Aug;78(3):269-78. doi: 10.1038/ki.2010.110. Epub 2010 Apr 21.

Abstract

Vesico-ureteric reflux is the most common congenital anomaly of the urinary tract, characterized by a defective uretero-vesical junction with retrograde urine flow from the bladder toward the kidneys. Because there is strong evidence for a genetic basis for some cases of vesico-ureteric reflux, we screened 11 inbred mouse strains for reflux and kidney size and identified one strain, C3H/HeJ, that has a 100 percent incidence of vesico-ureteric reflux with otherwise normal kidneys at birth. These mice are predisposed to reflux as a result of a defective uretero-vesical junction characterized by a short intravesical ureter. This defect results from a delay in urinary tract development initially manifested by a ureteric bud arising from a more caudal location along the mesonephric duct. In contrast, C57BL/6J mice (resistant to reflux at birth) have long intravesical ureters, normally positioned ureteric buds, and no delay in urinary tract development. Genome-wide and additional fine mapping of backcross mice, derived from C3H/HeJ and C57BL/6J crosses, identified a significant reflux susceptibility locus, Vurm1, on chromosome 12 (peak logarithm of the odds=7.39). The C3H/HeJ mouse is a model of vesico-ureteric reflux without renal malformation, and further characterization of this model will allow for the identification of a pathway important for urinary tract development, a finding that will serve as a model for the human disorder.

摘要

膀胱输尿管反流是最常见的先天性尿路异常,其特征是输尿管膀胱交界处有缺陷,导致尿液从膀胱逆行流向肾脏。由于有强有力的证据表明某些膀胱输尿管反流病例存在遗传基础,我们筛选了 11 种近交系小鼠品系的反流和肾脏大小,并确定了一种品系,即 C3H/HeJ,其膀胱输尿管反流的发生率为 100%,出生时肾脏正常。这些小鼠由于输尿管膀胱交界处存在缺陷而容易发生反流,其特征是膀胱内输尿管短。这种缺陷是由于尿路发育的延迟引起的,最初表现为输尿管芽从中肾管的更尾部位置产生。相比之下,C57BL/6J 小鼠(出生时对反流有抵抗力)具有长的膀胱内输尿管、正常位置的输尿管芽,并且尿路发育没有延迟。源自 C3H/HeJ 和 C57BL/6J 杂交的回交小鼠的全基因组和额外的精细定位确定了 12 号染色体上一个显著的反流易感性位点 Vurm1(对数优势峰值为 7.39)。C3H/HeJ 小鼠是一种没有肾脏畸形的膀胱输尿管反流模型,对该模型的进一步表征将有助于确定对尿路发育很重要的途径,这一发现将成为人类疾病的模型。

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