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Murine models characterized by conditional mutation of SMN gene - use for study of spinal muscular atrophy and other neurodegenerative diseases and muscular myopathies

机译：以SMN基因为条件突变的鼠模型-用于研究脊髓肌萎缩和其他神经退行性疾病和肌肌病。

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摘要

The present application describes non-human mamals, especially mice, which carry a conditional mutation in the survival motor neuron gene (SMN gene), said mutation enabling a tissue-specific expression pattern of a mutated SMN protein. A preferred mutation is in the exon 7 which enables the expression of a SMN protein having a truncated C-terminal end (SMNΔC15). These animals provide models for study of degenerative processes and in particular for the study of spinal muscular atrophy (SMA) or other neurodegenerative diseases including amyotrophic lateral sclerosis (SLA) or muscular myopathies including dystrophies. In addition to the animal models, the application provides means for the design of therapeutic strategies including for the evaluation of substances that may interact with deficiencies related to the mutation of the SMN gene.

机译：本申请描述了非人类哺乳动物，尤其是小鼠，其在存活运动神经元基因（SMN基因）中携带条件突变，所述突变使得突变的SMN蛋白的组织特异性表达模式成为可能。优选的突变是在外显子7中，其使得能够表达具有截短的C末端的SMN蛋白（SMNΔC15）。这些动物为研究退化过程提供了模型，特别是为研究脊髓性肌萎缩症（SMA）或其他神经退行性疾病（包括肌萎缩性侧索硬化症（SLA））或包括肌营养不良的肌肉肌病提供了模型。除了动物模型外，该申请还提供了用于设计治疗策略的手段，包括评估可能与SMN基因突变相关的缺陷相互作用的物质。

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公开/公告号EP1116790A1

专利类型
公开/公告日2001-07-18

原文格式PDF
申请/专利权人 INSTITUT NATIONAL DE LA SANTE ET DE LARECHERCHE MEDICALE (INSERM);ASSOCIATION FRANCAISE CONTRE LES MYOPATHIES;
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申请/专利号EP20000400100
发明设计人 LE MEUR MARIANNE;TIZIANO FRANCESCO DANILO;CIFUENTES-DIAZ CARMEN;DIERICH ANDRÉE;FRUGIER TONY;MELKI JUDITH;
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申请日2000-01-14
分类号C12N15/12;C07K14/475;C12Q1/68;A61K48/00;A01K67/027;G01N33/68;
国家 EP
入库时间 2022-08-22 01:15:23

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