Reproductive and neurological Quaking(viable) phenotypes in a severe combined immune deficient mouse background.
Reproductive and neurological Quaking(viable) phenotypes in a severe combined immune deficient mouse background.
复制标题
严重联合免疫缺陷小鼠背景中的生殖和神经颤抖（可行）表型。
DOI：
10.1007/s00251-005-0792-4
复制
发表时间：
2005
期刊：
影响因子：
3.2
通讯作者：
Schmidt,EdwardE
中科院分区：
文献类型：
--
作者：
Tucker,TammyA;Kundert,JeanA;Bondareva,AllaA;Schmidt,EdwardE
quakingviable（qvod）突变是小鼠17号染色体近端5.9 cM处约1 Mb多基因区域的自发缺失，导致所有纯合动物严重颤抖，所有纯合雄性不育。生理上，震颤小鼠表现出髓鞘形成障碍和减数分裂后精子发生停滞。Qkv小鼠的分子缺陷发生在受影响的组织中，表明这些病理的主要原因是细胞自主性的。然而，因为生殖和神经缺陷都在免疫豁免部位，并且因为这两个部位的一些类似病理已被证明是免疫介导的，我们测试了免疫系统是否次要参与Qkv表型的表现。将qkv突变体培育成严重联合免疫缺陷小鼠系（SCID;缺乏成熟B和T细胞），并测量神经和雄性不育表型的突变率。结果表明，在免疫缺陷背景下，两种缺陷均未得到改善。我们的结论是，Qkv病理学不太可能涉及B或T细胞依赖性反应对这些免疫豁免网站。
Thequakingviable(qkv) mutation, a spontaneous deletion of a multigenic region encompassing roughly 1 Mb at 5.9 cM on the proximal end of mouse chromosome 17, causes severe trembling in all homozygous animals and infertility in all homozygous males. Physiologically, quaking mice exhibit dysmyelination and postmeiotic spermatogenic arrest. Molecular defects inQkvmice occur in the affected tissues, indicating the primary causes of these pathologies are cell autonomous. However, because both the reproductive and neurological defects are in immune-privileged sites and because some similar pathologies at both sites have been shown to be immune mediated, we tested whether the immune system participates secondarily in manifestation ofQkvphenotypes. Theqkvmutation was bred into a severe combined immune-deficient mouse line (SCID; devoid of mature B and T cells) and penetrance of the neurological and the male sterile phenotypes was measured. Results showed that neither defect was ameliorated in the immune-deficient background. We conclude that theQkvpathologies do not likely involve a B- or T-cell-dependent response against these immune-privileged sites.