Article
YAC transgenic mice carrying pathological alleles of the MJD1 locus exhibit a mild and slowly progressive cerebellar deficit.
Human molecular genetics - 1 May 2002
Cemal Cemal K, Carroll Christopher J, Lawrence Lorraine, Lowrie Margaret B, Ruddle Piers, Al-Mahdawi Sahar, King Rosalind H M, Pook Mark A, Huxley Clare, Chamberlain Susan
Abstract excerpt
Machado-Joseph disease (MJD; MIM 109150) is a late-onset neurodegenerative disorder caused by the expansion of a polyglutamine tract within the MJD1 gene. We have previously reported the generation of human yeast artificial chromosome (YAC) constructs encompassing the MJD1 locus into which expanded (CAG)(76) and (CAG)(84) repeat motifs have been introduced by homologous recombination. Transgenic mice containing...
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