Pathological and molecular biological investigations of congenital ataxia mouse bearing abnormal iron metabolism

我们的先天性共济失调小鼠在2号染色体rs13476689附近有遗传改变。突变分析鉴定出1653个突变，包括SNP、插入和缺失。另外，在Gm13912基因的第二个内含子中发现7048 bp的缺失。这些基因的改变使得对个体动物进行基因分型以维持该菌株成为可能。然而，导致共济失调的基因改变还不能确定。脊髓和三叉神经的空泡变性表现为NF200阳性神经元轴突的球状形成。神经变性在发病前就已经发生了。实时荧光定量PCR分析表明，肾内铁沉积是由二价金属离子转运体减少引起的。

Our congenital ataxia mouse had genetic alterations in the vicinity of rs13476689 in chromosome 2. Mutation analysis identified 1653 mutations including SNP, insertion and deletion. In addition, 7048 bp deletion was found in the second intron of Gm13912 gene. These genetic alterations made it possible to genotype individual animals to maintain the strain. However, the responsible genetic alterations for ataxia could not be determined. Vacuolar degenerations found in the spinal and trigeminal nerves were the spheroid formation in the axon of NF200 positive neuron. The neurodegeneations had been occurred before the onset of the disease. Real-time PCR analysis of gene expression suggested that iron deposition in the kidney was caused by diminished divalent metal ion transporter.