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髓磷脂缺乏,一种小鼠中的新型神经学突变体。

Myelin deficient, a new neurological mutant in the mouse.

作者信息

Doolittle D P, Schweikart K M

出版信息

J Hered. 1977 Sep-Oct;68(5):331-2. doi: 10.1093/oxfordjournals.jhered.a108850.

DOI:10.1093/oxfordjournals.jhered.a108850
PMID:599283
Abstract

A new autosomal recessive gene in mice is described that produces deficiencies in central nervous system myelin and quaking or trembling of the hindquarters during locomotion. Although both behavioral and central nervous system abnormalities resembled those produced by qk, the new mutation was not an allele of qk. We propose that the new mutation should be labeled myelin deficient (symbol, mld).

摘要

本文描述了小鼠中的一种新的常染色体隐性基因,该基因会导致中枢神经系统髓磷脂缺乏,并在运动时出现后肢震颤或颤抖。尽管行为和中枢神经系统异常与qk基因产生的异常相似,但新突变并非qk的等位基因。我们建议将这个新突变标记为髓磷脂缺陷(符号为mld)。

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1
Myelin deficient, a new neurological mutant in the mouse.髓磷脂缺乏,一种小鼠中的新型神经学突变体。
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2
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Molecular defects in the dysmyelinating mutant quaking.脱髓鞘突变体震颤的分子缺陷
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Proton magnetic resonance in myelin deficient brains of mutant mice.突变小鼠髓磷脂缺乏脑内的质子磁共振成像
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The quakingviable mutation affects qkI mRNA expression specifically in myelin-producing cells of the nervous system.颤抖可行突变 specifically在神经系统的髓鞘生成细胞中影响qkI mRNA表达。 (注:“specifically”这里翻译为“具体地”不太准确,结合语境可能更合适的是“专门地、特定地”等,但按照要求未做调整)
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Endogenous cerebellar soluble lectin and its ligands in central nervous system myelin of quaking and jimpy mutant mice.震颤和颤抖突变小鼠中枢神经系统髓鞘中的内源性小脑可溶性凝集素及其配体
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引用本文的文献

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Systems genetics analysis of the LXS recombinant inbred mouse strains:Genetic and molecular insights into acute ethanol tolerance.LXS 重组近交系小鼠的系统遗传学分析:急性乙醇耐受的遗传和分子见解。
PLoS One. 2020 Oct 23;15(10):e0240253. doi: 10.1371/journal.pone.0240253. eCollection 2020.
3
A new ENU-induced allele of mouse quaking causes severe CNS dysmyelination.
一种新的ENU诱导的小鼠震颤等位基因导致严重的中枢神经系统髓鞘形成异常。
Mamm Genome. 2005 Sep;16(9):672-82. doi: 10.1007/s00335-005-0035-x. Epub 2005 Oct 20.
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Insertion of a retrotransposon in Mbp disrupts mRNA splicing and myelination in a new mutant rat.逆转录转座子插入Mbp基因会破坏一种新突变大鼠的mRNA剪接和髓鞘形成。
J Neurosci. 1999 May 1;19(9):3404-13. doi: 10.1523/JNEUROSCI.19-09-03404.1999.
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Oligodendroglia regulate the regional expansion of axon caliber and local accumulation of neurofilaments during development independently of myelin formation.少突胶质细胞在发育过程中独立于髓鞘形成调节轴突管径的区域扩张和神经丝的局部积累。
J Neurosci. 1996 Aug 15;16(16):5095-105. doi: 10.1523/JNEUROSCI.16-16-05095.1996.
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Cellular and molecular aspects of myelin protein gene expression.髓磷脂蛋白基因表达的细胞与分子层面
Mol Neurobiol. 1988 Spring;2(1):41-89. doi: 10.1007/BF02935632.
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Myelin instability and oligodendrocyte metabolism in myelin-deficient mutant mice.髓鞘缺陷突变小鼠中的髓鞘不稳定与少突胶质细胞代谢
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In situ analysis of myelin basic protein gene expression in myelin-deficient oligodendrocytes: antisense hnRNA and readthrough transcription.髓鞘碱性蛋白基因在髓鞘缺陷少突胶质细胞中的原位分析:反义核不均一RNA与通读转录
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The dysmyelinating mouse mutations shiverer (shi) and myelin deficient (shimld).脱髓鞘小鼠突变体颤抖鼠(shi)和髓磷脂缺陷鼠(shimld)。
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Molecular genetic analysis of the mldr mouse: a spontaneous revertant at the mld locus containing a recombinant myelin basic protein gene.mldr小鼠的分子遗传学分析:mld位点的一个自发回复突变体,包含一个重组髓鞘碱性蛋白基因。
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