Characterization of novel dystonia musculorum mutant mice: Implications for central nervous system abnormality
详细信息 查看全文
- 作者：Masao Horiea ; Kazuyuki Mekadab ; c ; Hiromi Sanod ; e ; Yoshiaki Kikkawaf ; Satomi Chikend ; e ; Takuro Someyaa ; Keisuke Saitoa ; M Ibrahim Hossaina ; Masaaki Nametag ; Kuniya Abeb ; Kenji Sakimurah ; Katsuhiko Onoi ; Atsushi Nambud ; e ; Atsushi Yoshikib ; Hirohide Takebayashia ; takebaya@med.niigata-u.ac.jp" class="auth_mail" title="E-mail the corresponding author
- 关键词：Dystonia muscurolum ; Naturally occurring mutant ; Dystonin ; Neurofilament accumulation ; Neurodegeneration ; Hereditary sensory and autonomic neuropathy type 6
- 刊名：Neurobiology of Disease
- 出版年：2016
- 出版时间：December 2016
- 年：2016
- 卷：96
- 期：Complete
- 页码：271-283
- 全文大小：2629 K
文摘
- •
Novel spontaneous mutant mice with dystonia musculorum (dt) phenotype were isolated.
- •
Nonsense mutation was identified in dystonin on the mutant allele, named Dstdt-23Rbrc.
- •
Neurofilament accumulation was observed in the brain of Dstdt-23Rbrc homozygotes.
- •
Aberrant motor coordination in Dstdt-23Rbrc homozygotes was observed by behavior tests.
- •
Dstdt-23Rbrc homozygotes are candidate model mice for HSAN6.