A murine model for juvenile NCL:: Gene targeting of mouse Cln3

被引:29
作者
Greene, NDE
Bernard, DL
Taschner, PEM
Lake, BD
de Vos, N
Breuning, MH
Gardiner, RM
Mole, SE
Nussbaum, RL
Mitchison, HM
机构
[1] Univ London Univ Coll, Sch Med, Dept Paediat, London WC1E 6JJ, England
[2] NHGRI, Genet Dis Res Branch, NIH, Bethesda, MD USA
[3] Leiden Univ, Dept Human Genet, NL-2300 RA Leiden, Netherlands
[4] Great Ormond St Hosp Children, Dept Histopathol, London WC1N 3JH, England
关键词
JNCL; neuronal ceroid lipofuscinosis; CLN3; gene targeting;
D O I
10.1006/mgme.1999.2828
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
JNCL is a neurodegenerative disease of childhood caused by mutations in the CLN3 gene. A mouse model for JNCL was created by disrupting exons 1-6 of Cln3, resulting in a null allele, Cln3 null mice appear clinically normal at 5 months of age; however, like JNCL patients, they exhibit intracellular accumulation of autofluorescent material, A second approach will generate mice in which exons 7 and 8 of Cln3 are deleted, mimicking the common mutation in JNCL patients, (C) 1999 Academic Press.
引用
收藏
页码:309 / 313
页数:5
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