Mice with mutations in the mahogany gene Atrn have cerebral spongiform changes
Mice with mutations in the mahogany gene Atrn have cerebral spongiform changes
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DOI：
10.1093/jnen/60.7.724
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发表时间：
2001-07-01
影响因子：
3.2
通讯作者：
Naggert, JK
中科院分区：
文献类型：
--
作者：
Bronson, RT;Donahue, LR;Naggert, JK
一种新的突变体，其特征为桃花心木毛色、四肢伸展的步态、震颤以及大脑、脑干的严重空泡化。在一群栗鼠中发现了小脑和脊髓的颗粒层。使用两种已知桃花心木吸引素（Atrn（mg））突变体的纯合小鼠进行等位性测试表明，新突变是Atrn（mg）的等位基因，Northern分析显示新突变体中没有Atrn表达。 Southern分析强烈表明，新突变删除了大部分Arm基因，但不足以影响侧翼基因，包括朊病毒基因Prnp，位于2号染色体上距离Arm 1.1 cM。对2个已知Atrn(mg)突变体的大脑进行的组织病理学分析表明，它们也有严重的海绵状变化。正如最近报道的那样，这一发现令人惊讶，并引发了人们对桃花心木控制食欲和代谢率的机制的疑问。
A new mutation characterized by mahogany coat color, sprawling gait, tremors, and severe vacuolization of cerebrum, brainstem. granular layer of cerebellum and spinal cord was discovered in a stock of Mus castaneus mice. Tests for allelism using mice homozygous for 2 known mahogany attractin (Atrn(mg)) mutants showed that the new mutation was an allele of Atrn(mg), Northern analysis showed no expression of Atrn in the new mutants. Southern analysis strongly suggested that the new mutation deleted most of the Arm gene, but was not large enough to affect flanking genes including the prion gene, Prnp, located 1.1 cM from Arm on Chromosome 2. Histopathological analysis of brains from each of the 2 known Atrn(mg) mutants showed that they also have severe spongiform changes. This finding was surprising and raises questions about the mechanism by which mahogany controls appetite and metabolic rate, as recently reported.