The following mouse mutants are available for distribution.
Igf2/H19 Regulatory Elements (available as live mice)
- H19-DICR (or DMJ) 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.
- H19-ICRflox (or MJ) 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.
- H19-DME (or 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. See Kaffer et al. 2001.
- H19-DCTCF deletes 400 bp at +28kb. This deletion removes muscle specific CTCF binding sites.
- H19BAC (or 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.
- H19DEx1 (or DMIL) deletes 700 bp within H19 exon 1. The truncated RNA is unstable. Thus this deletion results in depletion of H19 lncRNA without altering levels of H19-dependent miRNA 675. See Srivastava et al. 2003.
Kcnq1 (available only as frozen embryos)
- 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.
Casq2 (available as live mice)
- 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.
- Casq2-Floxed (or Casq2-588) carries loxP insertions around Casq2 promoter and exon 1. This allele is functionally wild type but cre-mediated recombination results in a Casq2 null allele. See Flores et al. 2018.
- Casq2-RevFloxed (or Casq2-700) inverts the Casq2 promoter and exon 1 and flanks them with inverted loxP sites. This allele is functionally null but cre-mediated recombination results in a functionally wild type Casq2 allele. See Flores et al. 2018.