Down syndrome and mouse models
Down syndrome and mouse models
复制标题
DOI：
10.1016/s0959-437x(98)80088-9
复制
发表时间：
1998-06-01
影响因子：
4
通讯作者：
Hertzog, PJ
中科院分区：
文献类型：
--
作者：
Kola, I;Hertzog, PJ
在过去的一年里，Ts 65 Dn小鼠模型的表征取得了重大进展（现在已知它显示了唐氏综合征的许多特征）。一种新的模型是21q22.2区域的三体-以前称为“唐氏综合征”区域-已经产生，这些小鼠显示出行为和学习缺陷。基因Minibrain和SOD 1的突变与唐氏综合征的学习缺陷的发展有关，许多来自人类21号染色体的新基因正在被克隆，这将导致其他模型的产生，这些模型可以复制一种或多种唐氏综合征的病理。
The past year has seen major advancements in the characterisation of the Ts65Dn mouse model (which is now known to display many features of Down syndrome). A newer model that is trisomic for the region 21q22.2 - previously called 'Down syndrome' region - has been generated and these mice display behavioural and learning defects. Mutations in the genes Minibrain and SOD1 have been implicated in the development of learning defects in Down syndrome and many new genes from human chromosome 21 are being cloned, which should result in the genesis of other models that phenocopy one or more pathologies of the syndrome.