References
Query Results -- Details
MGI Accession ID: MGI:1101242
J Number: J:44728
Other Accession IDs:
Title: Ectopically expressed CAG repeats cause intranuclear inclusions and a progressive late onset neurological phenotype in the mouse.
Authors: Ordway JM; Tallaksen-Greene S; Gutekunst CA; Bernstein EM; Cearley JA; Wiener HW; Dure LS 4th; Lindsey R; Hersch SM; Jope RS; Albin RL; Detloff PJ
Journal: Cell
Volume: 91
Issue: 6
Date: 1997 Dec 12
Year: 1997
Pages: 753-63
Review Status: Peer Reviewed
Abstract:
The mutations responsible for several human neurodegenerative disorders are expansions of translated CAG repeats beyond a normal size range. To address the role of repeat context, we have introduced a 146-unit CAG repeat into the mouse hypoxanthine phosphoribosyltransferase gene (Hprt). Mutant mice express a form of the HPRT protein that contains a long polyglutamine repeat. These mice develop a phenotype similar to the human translated CAG repeat disorders. Repeat containing mice show a late onset neurological phenotype that progresses to premature death. Neuronal intranuclear inclusions are present in affected mice. Our results show that CAG repeats do not need to be located within one of the classic repeat disorder genes to have a neurotoxic effect.
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