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Characterisation of SCA3 mutant mice with a dominant toxic effect

J Hübener, F Vauti, H Arnold, C Funke, M Bonin, T Schmidt, P Teismann, H Wolburg, O Rieß · Aktuelle Neurologie · 2007 · Heft 09

Dokument
1137134
CareLit-ID
Jahr
2007
Publikation
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Metadaten
DOI
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Bibliografische Angaben

Zeitschrift
Aktuelle Neurologie
Autor:innen
J Hübener, F Vauti, H Arnold, C Funke, M Bonin, T Schmidt, P Teismann, H Wolburg, O Rieß
Ausgabe
Heft 09 / 2007
Seiten
–
Erschienen: 2007-09-11 00:00:00
ISSN
0302-4350
DOI
10.1055/s-2007-987538

Zusammenfassung

Spinocerebellar Ataxia Type 3 (SCA3) is an autosomal dominant neurodegenerative disorder caused by polyglutamin-expanded ataxin-3, whose function is still unknown. In order to further evaluate the function of ataxin-3 in vivo, we analysed ataxin-3 mutant mice generated by a gene trap (GT) approach. The plasmid GT-vector betaGeo2 was integrated into the intron 8 of the ataxin-3 gene The polyglutamin repeat in exon 10 is missing in these ataxin-3 mutant mice. Homozygous mutant mice (Atx3gt/gt) survive embryogenesis and do not show obvious developmental defects. Immunohistochemistry analysis revealed a high number…

Schlagworte

Ataxin-3 Ataxia Blood Ataxin-3-Protein After Aktuelle Neurologie