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MICE CONTAINING MUTATIONS, AS A RESULT OF WHICH FIBRILLIN-1 SHORTENED AT C-TERMINUS IS EXPRESSED

机译：含有突变的小鼠，表达了在C端缩短的FIBRILLIN-1

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摘要

FIELD: chemistry.;SUBSTANCE: invention relates to biochemistry, in particular to a mouse whose genome contains a mutation in the penultimate exon of the fibrillin-1 gene, to its embryonic stem (ES) cell, as well as to a method for producing the above mouse. Also disclosed is a method for screening a compound for activity which reduces symptoms similar to those of congenital lipodystrophy involving using said mouse.;EFFECT: invention enables effective modelling of neonatal progeroid syndrome with congenital lipodystrophy.;62 cl, 13 dwg, 2 tbl, 2 ex

机译：技术领域本发明涉及生物化学，尤其涉及一种小鼠，其基因组中包含原纤维蛋白-1 基因倒数第二个外显子中的突变，涉及其胚胎干（ES）细胞，以及生产上述小鼠的方法。还公开了一种筛选化合物的活性的方法，所述活性降低了类似于使用所述小鼠的先天性脂肪营养不良的症状。效果：本发明能够有效地建模具有先天性脂肪营养不良的新生儿早衰综合症。62 cl，13 dwg，2 tbl， 2前 展开▼

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公开/公告号RU2721125C1

专利类型

公开/公告日2020-05-18

原文格式PDF

申请/专利权人 REGENERON PHARMACEUTICALS INC.;
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申请/专利号RU20190105783

发明设计人 HUNT CHARLEEN (US);MASTAITIS JASON (US);GONG GUOCHUN (US);LAI KA-MAN VENUS (US);GROMADA JESPER (US);ECONOMIDES ARIS N. (US);
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申请日2017-07-28

分类号A01K67/027;A61K49;

国家 RU

入库时间 2022-08-21 11:02:32

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1. 一种小鼠RANKL突变体及其表达载体的构建、表达及应用 [P] . 中国专利： CN104059141B . 2017.09.12

2. 一种小鼠RANKL突变体表达载体及其构建、表达及应用 [P] . 中国专利： CN105349560A . 2016-02-24

3. MICE CONTAINING MUTATIONS, AS A RESULT OF WHICH FIBRILLIN-1 SHORTENED AT C-TERMINUS IS EXPRESSED [P] . 俄罗斯专利： RU0002721125C1 . 2020.05.18

4. Mice comprising mutations resulting in expression of c-truncated fibrillin-1 [P] . IL264434D0 . 2019-02-28

机译：包含突变的小鼠导致c-截短的原纤维蛋白1的表达

5. Mice comprising mutations resulting in expression of c-truncated fibrillin-1 [P] . AU2017302657A1 . 2019-02-14

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