公开(公告)号：WO2014023672A1

公开(公告)日：2014-02-13

申请号：PCT/EP2013/066341

申请日：2013-08-03

Applicant: FOUNDATION FOR RESEARCH AND TECHNOLOGY HELLAS - FORTH

Inventor： MAVROTHALASSITIS, George

IPC: A01K67/027 ,  C07K14/47

CPC classification number: A01K67/0276 ,  A01K2217/054 ,  A01K2217/075 ,  A01K2217/20 ,  A01K2227/105 ,  A01K2267/03 ,  A01K2267/0306 ,  C07K14/4703 ,  C12N15/8509

Abstract: The present invention concerns a non-human transgenic animal comprising a modification in its genome which results in the animal exhibiting a level of Erf expression and/or ERF activity which is reduced compared to a wildtype animal, wherein said animal has a defect in ossification. Further provided is a non-human transgenic animal comprising an insertion of a promoter-marker gene cassette in one or both Erf alleles wherein the cassette is present in an intron of Erf and wherein said animal exhibits an expression level of Erf and/or ERF activity which is reduced compared to a wildtype animal. Uses of these animals and of a non-human transgenic animal comprising a modification in its genome which results in the animal exhibiting a level of expression of Erf and/or ERF activity which is reduced compared to a wildtype animal for producing animals with ossification defects, for identifying treatments and as disease models are encompassed.

Abstract translation: 本发明涉及一种非人转基因动物，其包含其基因组中的修饰，其导致动物表现出与野生型动物相比降低的Erf表达和/或ERF活性水平，其中所述动物具有骨化缺陷。 还提供了非人转基因动物，其包括在一个或两个Erf等位基因中插入启动子 - 标记基因盒，其中所述盒存在于Erf的内含子中，并且其中所述动物表现出Erf和/或ERF活性的表达水平 其与野生型动物相比减少。 这些动物和非人转基因动物的使用在其基因组中包含修饰，导致动物表现出与用于产生具有骨化缺陷的动物有关的野生型动物的Erf和/或ERF活性的表达水平， 用于识别治疗并且包括疾病模型。

公开(公告)号：EP2882285A1

公开(公告)日：2015-06-17

申请号：EP13753591.0

申请日：2013-08-03

Applicant: Foundation for Research and Technology Hellas FORTH

Inventor： MAVROTHALASSITIS, George

IPC: A01K67/027 ,  C07K14/47

CPC classification number: A01K67/0276 ,  A01K2217/054 ,  A01K2217/075 ,  A01K2217/20 ,  A01K2227/105 ,  A01K2267/03 ,  A01K2267/0306 ,  C07K14/4703 ,  C12N15/8509

Abstract: The present invention concerns a non-human transgenic animal comprising a modification in its genome which results in the animal exhibiting a level of
Erf expression and/or ERF activity which is reduced compared to a wildtype animal, wherein said animal has a defect in ossification. Further provided is a non-human transgenic animal comprising an insertion of a promoter-marker gene cassette in one or both
Erf alleles wherein the cassette is present in an intron of
Erf and wherein said animal exhibits an expression level of
Erf and/or ERF activity which is reduced compared to a wildtype animal. Uses of these animals and of a non-human transgenic animal comprising a modification in its genome which results in the animal exhibiting a level of expression of
Erf and/or ERF activity which is reduced compared to a wildtype animal for producing animals with ossification defects, for identifying treatments and as disease models are encompassed.