Instability of the insertional mutation in CftrTgH(neoim)Hgu cystic fibrosis mouse model

Nikoletta Charizopoulou, Silke Jansen, Martina Dorsch, Frauke Stanke, Julia R Dorin, Hans-Jürgen Hedrich, Burkhard Tümmler

Research output: Contribution to journalArticlepeer-review

Abstract / Description of output

A major boost to the cystic fibrosis disease research was given by the generation of various mouse models using gene targeting in embryonal stem cells. Moreover, the introduction of the same mutation on different inbred strains generating congenic strains facilitated the search for modifier genes. From the original CftrTgH(neoim)Hgu CF mouse model we have generated using strict brother x sister mating two inbred CftrTgH(neoim)Hgu mouse lines (CF/1 and CF/3). Thereafter, the insertional mutation was introgressed from CF/3 into three inbred backgrounds (C57BL/6, BALB/c, DBA/2J) generating congenic animals. In every backcross cycle germline transmission of the insertional mutation was monitored by direct probing the insertion via Southern RFLP. In order to bypass this time consuming procedure we devised an alternative PCR based protocol whereby mouse strains are differentiated at the Cftr locus by Cftr intragenic microsatellite genotypes that are tightly linked to the disrupted locus.
Original languageEnglish
Pages (from-to)6
JournalBMC Genetics
Publication statusPublished - 21 Apr 2004

Keywords / Materials (for Non-textual outputs)

  • Animals
  • Crosses, Genetic
  • Cystic Fibrosis
  • Cystic Fibrosis Transmembrane Conductance Regulator
  • Disease Models, Animal
  • Female
  • Gene Frequency
  • Genotype
  • Germ-Line Mutation
  • Haplotypes
  • Male
  • Mice
  • Mice, Congenic
  • Mice, Inbred BALB C
  • Mice, Inbred C57BL
  • Mice, Inbred DBA
  • Microsatellite Repeats
  • Mutagenesis, Insertional
  • Mutation


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