Integration of a c-myc transgene results in disruption of the mouse Gtf2ird1 gene, the homologue of the human GTF2IRD1 gene hemizygously deleted in Williams-Beuren syndrome

Genomics. 2001 Apr 1;73(1):20-7. doi: 10.1006/geno.2001.6507.


Transgenic mice expressing c-myc under the control of the albumin promoter and enhancer develop liver tumors and have served as a useful model for studying the progression of hepatocarcinogenesis. The chromosomes of one line of c-myc transgenic mice carry the reciprocal translocation t(5;6)(G1;F2) adjacent to the transgene insertion site on the 5G1-ter segment translocated to chromosome 6. To characterize the genomic alterations in the c-myc transgenic animals, we have cloned the mouse DNA flanking the transgene array. By linkage mapping, the transgene integration site was localized to the region of distal chromosome 5 syntenic to the region on human chromosome 7q11.23 that is hemizgygously deleted in Williams-Beuren syndrome, a multisystemic developmental disorder. Comparison of the genomic DNA structure in wildtype and transgenic mice revealed that the transgene integration had induced an approximately 40-kb deletion, starting downstream of the Cyln2 gene and including the first exon of the Gtf2ird1 gene. Gtf2ird1 encodes a polypeptide related to general transcription factor TFII-I, and it is the mouse orthologue of GTF2IRD1 (WBSCR11), one of the genes commonly deleted in Williams-Beuren syndrome patients. Loss of the 5' end of the Gtf2ird1 gene resulted in greatly reduced expression of Gtf2ird1 mRNA in mice homozygous for the transgene.

MeSH terms

  • Animals
  • Base Sequence
  • Chromosome Mapping / methods
  • Chromosomes, Human, Pair 7
  • DNA
  • Exons
  • Gene Deletion
  • Gene Expression
  • Genes, myc*
  • Genetic Linkage
  • Helix-Loop-Helix Motifs
  • Humans
  • Mice
  • Mice, Transgenic
  • Models, Animal
  • Molecular Sequence Data
  • RNA, Messenger / genetics
  • Transcription Factors / genetics*
  • Transgenes
  • Translocation, Genetic
  • Williams Syndrome / genetics*


  • RNA, Messenger
  • Transcription Factors
  • DNA

Associated data

  • GENBANK/AF257475
  • GENBANK/AF257476
  • GENBANK/AF257477