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Publication : Skipping of exon 9 of human CFTR in YAC-transgenic mice.

First Author  Manson A Year  2001
Journal  Genomics Volume  77
Issue  3 Pages  127-34
PubMed ID  11597137 Mgi Jnum  J:72224
Mgi Id  MGI:2152012 Doi  10.1006/geno.2001.6630
Citation  Manson A, et al. (2001) Skipping of exon 9 of human cftr in yac-transgenic mice. Genomics 77(3):127-34
abstractText  Exon 9 of the human gene CFTR is skipped in some mRNA transcripts in human tissues. The level of skipping correlates with the number of TG's and T's in the 5' splice acceptor of exon 9. Poorly spliced alleles are associated with mild cystic fibrosis related phenotypes. Here we describe transgenic mice carrying a yeast artificial chromosome (YAC) with the intact human gene CFTR. When the YAC carries 10 TG's and 7 T's at the splice acceptor, there is about 50% skipping of exon 9 in most tissues, whereas 12 TG's and 5 T's give about 90% skipping. The level of skipping is quite uniform over many tissues, except the testis, in which there is a much higher level of correct splicing. These mice confirm that the TG(m)T(n) polymorphism has an effect on splicing and should be valuable for studying this phenomenon.
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