MGI phenotypes (allele matching)
B6.129P2(C)-Igf2tm4.1Wrk/H
| Status | Available to order |
| EMMA ID | EM:01733 |
| Citation information | RRID:IMSR_EM:01733 Research Resource Identifiers (RRID) are persistent unique ID numbers assigned to help researchers cite key resources (e.g. antibodies, model organisms and software projects) in the biomedical literature to improve transparency and reproducibility in research. See https://www.rrids.org/ for more information. |
| 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
MGI phenotypes (gene matching)
- delayed bone ossification / MGI
- decreased bone mineral density / MGI
- abnormal bone marrow cavity morphology / MGI
- abnormal sternum morphology / MGI
- abnormal xiphoid process morphology / MGI
- abnormal cartilage development / MGI
- abnormal heart morphology / MGI
- abnormal tibia morphology / MGI
- polydactyly / MGI
- increased body weight / MGI
- decreased body weight / MGI
- decreased body size / MGI
- abnormal lens morphology / MGI
- abnormal postnatal growth / MGI
- postnatal growth retardation / MGI
- abnormal skeleton development / MGI
- increased heart weight / MGI
- increased liver weight / MGI
- abnormal lumbar vertebrae morphology / MGI
- omphalocele / MGI
- maternal imprinting / MGI
- increased skeletal muscle size / MGI
- abnormal fetal cardiomyocyte proliferation / MGI
- abnormal imprinting / MGI
- increased hepatocyte proliferation / MGI
- increased kidney weight / MGI
- decreased kidney weight / MGI
- increased lean body mass / MGI
- embryonic growth retardation / MGI
- increased compact bone thickness / MGI
- abnormal prenatal growth/weight/body size / MGI
- fetal growth retardation / MGI
- small placenta / MGI
- abnormal placental transport / MGI
- increased placenta weight / MGI
- decreased placenta weight / MGI
- decreased osteoblast cell number / MGI
- abnormal heart ventricle morphology / MGI
- growth/size/body region phenotype / MGI
- abnormal circulating hormone level / MGI
- abnormal skeleton morphology / MGI
- abnormal heart septum morphology / MGI
- abnormal osteoblast differentiation / MGI
- abnormal osteoclast differentiation / MGI
- delayed eyelid fusion / MGI
- decreased fetal weight / MGI
- increased fetal weight / MGI
- decreased birth weight / MGI
- decreased birth body size / MGI
- prenatal growth retardation / MGI
- abnormal bone trabecula morphology / MGI
- abnormal compact bone lamellar structure / MGI
- postnatal lethality, complete penetrance / MGI
- lethality throughout fetal growth and development, incomplete penetrance / MGI
- adrenal gland cyst / MGI
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