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Reln(rl-Alb2), an allele of reeler isolated from a chlorambucil screen, is due to an IAP insertion with exon skipping.

作者信息

Royaux I, Bernier B, Montgomery J C, Flaherty L, Goffinet A M

机构信息

Department of Physiology, FUNDP Medical School, Namur, Belgium.

出版信息

Genomics. 1997 Jun 15;42(3):479-82. doi: 10.1006/geno.1997.4772.

DOI:10.1006/geno.1997.4772
PMID:9205121
Abstract

The reeler Albany2 mutation (Reln(rl-Alb2) in the mouse is an allele of reeler isolated during a chlorambucil mutagenesis screen. Homozygous animals had drastically reduced concentrations of reelin mRNA, in which an 85-nt exon was absent. At the genomic level, the mutation was shown to be due to an intracisternal A-particle insertion leading to exon skipping. This appears to be the first observation of retrotransposon insertion during chlorambucil mutagenesis.

摘要

相似文献

1
Reln(rl-Alb2), an allele of reeler isolated from a chlorambucil screen, is due to an IAP insertion with exon skipping.
Genomics. 1997 Jun 15;42(3):479-82. doi: 10.1006/geno.1997.4772.
2
A protein related to extracellular matrix proteins deleted in the mouse mutant reeler.一种与在小鼠突变体reeler中缺失的细胞外基质蛋白相关的蛋白质。
Nature. 1995 Apr 20;374(6524):719-23. doi: 10.1038/374719a0.
3
Behavioral phenotype of the reeler mutant mouse: effects of RELN gene dosage and social isolation.reeler突变小鼠的行为表型:RELN基因剂量和社会隔离的影响
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4
Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations.伴有小脑发育不全的常染色体隐性无脑回畸形与人类RELN基因突变有关。
Nat Genet. 2000 Sep;26(1):93-6. doi: 10.1038/79246.
5
Histological study in the brain of the reelin/Dab1-compound mutant mouse.对瑞连蛋白/Disabled-1复合突变小鼠大脑的组织学研究。
Anat Sci Int. 2009 Sep;84(3):200-9. doi: 10.1007/s12565-008-0009-7. Epub 2009 Feb 17.
6
Lack of Reelin causes malpositioning of nigral dopaminergic neurons: evidence from comparison of normal and Reln(rl) mutant mice.缺乏Reelin会导致黑质多巴胺能神经元位置异常:来自正常和Reln(rl)突变小鼠比较的证据。
J Comp Neurol. 2003 Jun 23;461(2):166-73. doi: 10.1002/cne.10610.
7
Missplicing resulting from a short deletion in the reelin gene causes reeler-like neuronal disorders in the mutant shaking rat Kawasaki.由于Reelin基因中的一个短缺失导致的剪接异常,在突变型颤抖大鼠川崎中引起了类似reeler的神经元紊乱。
J Comp Neurol. 2003 Aug 25;463(3):303-15. doi: 10.1002/cne.10761.
8
Scrambler and yotari disrupt the disabled gene and produce a reeler-like phenotype in mice.Scrambler和yotari破坏了残疾基因,并在小鼠中产生了类似reeler的表型。
Nature. 1997 Oct 16;389(6652):730-3. doi: 10.1038/39601.
9
Reeler gene discrepancies.Reeler基因差异
Nat Genet. 1995 Sep;11(1):12-3. doi: 10.1038/ng0995-12a.
10
[Cytoarchitectonic abnormality in the facial nucleus of the reeler mouse].[摇晃小鼠面神经核的细胞构筑异常]
Kaibogaku Zasshi. 1999 Aug;74(4):411-20.

引用本文的文献

1
Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disorders.RELN 中的单等位基因和双等位基因突变导致了一系列程度不同的神经发育障碍。
Brain. 2022 Sep 14;145(9):3274-3287. doi: 10.1093/brain/awac164.
2
Mouse germ line mutations due to retrotransposon insertions.由于逆转座子插入导致的小鼠种系突变。
Mob DNA. 2019 Apr 13;10:15. doi: 10.1186/s13100-019-0157-4. eCollection 2019.
3
Identification of a 31-bp deletion in the RELN gene causing lissencephaly with cerebellar hypoplasia in sheep.在绵羊中发现 RELN 基因的 31bp 缺失导致无脑回合并小脑发育不良。
PLoS One. 2013 Nov 19;8(11):e81072. doi: 10.1371/journal.pone.0081072. eCollection 2013.
4
A forward genetic screen in mice identifies mutants with abnormal cortical patterning.在小鼠中进行的正向遗传学筛选鉴定出具有异常皮质模式的突变体。
Cereb Cortex. 2015 Jan;25(1):167-79. doi: 10.1093/cercor/bht209. Epub 2013 Aug 22.
5
Intracisternal A-particle element transposition into the murine beta-glucuronidase gene correlates with loss of enzyme activity: a new model for beta-glucuronidase deficiency in the C3H mouse.脑池内A颗粒元件转位至小鼠β-葡萄糖醛酸酶基因与酶活性丧失相关:C3H小鼠β-葡萄糖醛酸酶缺乏症的新模型。
Mol Cell Biol. 1998 Nov;18(11):6474-81. doi: 10.1128/MCB.18.11.6474.