OKANO, HIDEYUKI,OKANO, JAMES HIROTAKA,MIYAUCHI, CHIKAKO
申请号：
EP13796611
公开号：
EP2856869A4
申请日:
2013.05.30
申请国别(地区):
EP
年份:
2016
代理人:
摘要：
To generate a mouse model exhibiting symptoms similar to those of human amyotrophic lateral sclerosis and/or human frontotemporal lobar degeneration. A mouse model exhibiting symptoms similar to those of human amyotrophic lateral sclerosis and/or human frontotemporal lobar degeneration can be produced by means of generating a mutation in a vertebrate so that expression of a mutant protein with a substitution of tyrosine for alanine at a position corresponding to position 382 of SEQ ID NO. 1 or a mutant protein with a substitution of cysteine for glycine at a position corresponding to position 348 of SEQ ID NO. 1 is regulated by an endogenous TDP-43 gene promoter in at least one allele of an endogenous TDP-43 gene of the vertebrate.
