The following mouse mutants are available for distribution.
Igf2/H19 Regulatory Elements
- K519 deletes sequences between -10 and -1 kb upstream of the H19 transcriptional start site. This deletion removes the H19DMR and results in loss of imprinting of the Igf2 and H19 genes. See Kaffer et al. 2000.
- MJ744 carries loxP insertions at the -7 and -1 kb positions upstream of the H19 transcriptional start site. Thus the H19DMR is flanked with loxP elements.
- UGI8 mice are FVB congenics that carry a distal 7 chromosome that is M. castaneus in origin. See Gould and Pfeifer 1998.
- VM3 deletes sequences between +10 and +34 Kb downstream of the H19 transcriptional start site. This deletion removes sequences essential for expression of H19 and of Igf2 in skeletal muscle. SeeKaffer et al. 2001.
- EI27 carries an BAC transgene including the H19 gene and 7 kb of upstream and approximately 140 kb of downstream sequences. See Kaffer et al. 2000.
- AfpA and AfpB carry insertions of the 2.4 kb H19DMR element positioned at - 1 kb upstream of the alpha-fetoprotein gene on chromosome 5. See Park et al. 2004.
- AfpD carries an insertion of a 9 kb region including the H19DMR positioned at -1 kb upstream of the alpha-feto protein gene on chromosome 5. See Park et al. 2004.
- AfpDCK carries an insertion of a 7 kb region including the H19DMR, the H19 G Box, the H19 promoter, and H19 RNA coding sequences positioned at -1 kb upstream of the alpha-feto protein gene on chromosome 5. See Gebert et al. 2010.
- CD3-CMG carries an insertion of the 2.4 kb H19DMR element positioned at the BpuAI site between the CD3 gamma and CD3 delta genes on chromosome 9. See Gebert et al. 2010.
- J800 carries an insertion/deletion mutation at the Kcnq1 gene and results in a complete loss in Kcnq1 gene activity. See Casimiro et al. 2001.
- J343 carries a point mutations in Kcnq1 resulting in the following change the Kcnq1 peptide: A340E. See Casimiro et al. 2004.
- Pnmt8 (or Pnmt::Cre) carries an insertion of the Cre recombinase gene at the Pnmt locus so that cre recombinase protein is expressed in cells in which Pnmt is normally active. This mutation disrupts the Pnmt gene so that mice homozygous for this mutation lack any detectable Pnmt protein or enzyme activity. See Ebert et al. 2004.
- Casq2Δ (or Δ588) carries a deletion of the Casq2 promoter and exon 1. No Casq2 mRNA or protein are detectable. See Knollman et al. 2006.