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

来源：

MOLECULAR GENETICS AND METABOLISM | 1999年 / 66卷 / 04期

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

页码：309 / 313

页数：5

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