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
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