MGI phenotypes (allele matching)
B6.129P2(C)-Igf2tm4.1Wrk/H
| Status | Available to order |
| EMMA ID | EM:01733 |
| International strain name | B6.129P2(C)-Igf2tm4.1Wrk/H |
| Alternative name | S1.2Del |
| Strain type | Targeted Mutant Strains : Other targeted |
| Allele/Transgene symbol | Igf2tm4.1Wrk, |
| Gene/Transgene symbol | Igf2 |
Information from provider
| Provider | Dr Wolf Reik |
| Provider affiliation | The Babraham Institute, Babraham, Cambridge, CB2 4PB |
| Genetic information | Replacement vector causing a small knock-out in a silencer region of the mouse Igf2 gene, in a repressor protein binding site, and leading to relative derepression of Igf2. In wild-type mice the Igf2 gene is imprinted on the maternal allele. The question addressed by this knock-out was to determine how much of the repression of the Igf2 maternal allele might be due to the presence of the upstream GCF2 (GC-binding factor 2, a known repression protein) binding site element located at HpaII site 4, in the differentially methylated region 1 (DMR1) of the Igf2 locus. The S1.2 DEL strain carries therefore a disruption of the GCF2 element caused by the insertion of a single loxP sequence within the GCF2 element. The GCF2 binding site mutation results in de-repression of the normally silent maternal allele (~3-fold more mRNA is produced compared with the wild-type maternal allele; see Eden et al. 2001, EMBO J, 20: 3518-3525 for more details). Note: the S1.2DEL strain was obtained by crossing the S1.2 Neo strain (EMMA strain EM:01732) with an ubiquitous expressor of the cre recombinase protein. |
| Phenotypic information | Loss of Igf2 imprinting. |
| References |
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Information from EMMA
| Archiving centre | Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Isolated hemihyperplasia / Orphanet_2128
- Silver-Russell syndrome due to a point mutation / Orphanet_397590
Literature references
- An upstream repressor element plays a role in Igf2 imprinting.;Eden S, Constancia M, Hashimshony T, Dean W, Goldstein B, Johnson A C, Keshet I, Reik W, Cedar H, ;2001;The EMBO journal;20;3518-25; 11432838