Article
Severe neurological phenotypes of Q129 DRPLA transgenic mice serendipitously created by en masse expansion of CAG repeats in Q76 DRPLA mice.
Human molecular genetics - 15 Feb 2009
Sato Toshiya, Miura Masami, Yamada Mitsunori, Yoshida Takayuki, Wood Jonathan D, Yazawa Ikuru, Masuda Masao, Suzuki Takeo, Shin Ryong-Moon, Yau Hau-Jie, Liu Fu-Chin, Shimohata Takayoshi, Onodera Osamu, Ross Christopher A, Katsuki Motoya, Takahashi Hitoshi, Kano Masanobu, Aosaki Toshihiko, Tsuji Shoji
Abstract excerpt
We herein provide a thorough description of new transgenic mouse models for dentatorubral-pallidoluysian atrophy (DRPLA) harboring a single copy of the full-length human mutant DRPLA gene with 76 and 129 CAG repeats. The Q129 mouse line was unexpectedly obtained by en masse expansion based on the somatic instability of 76 CAG repeats in vivo. The mRNA expression levels of both Q76 and Q129 transgenes were each...
Topics
- Age Factors
- Animals
- Brain
- Disease Models, Animal
- Disease Progression
- Female
- Humans
- Male
- Mice
- Mice, Inbred C57BL