IMPC phenotypes (gene matching)
B6.Cg-Pdgfrbtm1.1Rheu/Kctt
| Status | Available to order |
| EMMA ID | EM:02257 |
| Citation information | RRID:IMSR_EM:02257 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.Cg-Pdgfrbtm1.1Rheu/Kctt |
| Alternative name | Pdgfrb-D849N |
| Strain type | Targeted Mutant Strains : Knock-in |
| Allele/Transgene symbol | PdgfrbtmRheu |
| Gene/Transgene symbol | Pdgfrb |
Information from provider
| Provider | Rainer Heuchel |
| Provider affiliation | Ludwig Institute for Cancer Research |
| Genetic information | The Pdgfrb D849N mutation is an activating mutation conferring low constitutive receptor activity/autophosphorylation. A similar, but stronger, mutation (D842V) has been found in the PDGFRA gene in gastrointestistinal stromal tumors (GISTs) in humans. The targeting vector consisted of a 1.7-kb EcoRV-SpeI genomic 5'-fragment, followed by a PGKneobpA expression cassette flanked by loxP sites, a 5-kb SpeI-XhoI genomic 3'-fragment containing the point mutated exon 18, and a herpes simplex virus thymidine kinase expression cassette in pBluescript SK(+). |
| Phenotypic information | No overt phenotype. |
| Breeding history | Backcrossed to C57BL/6ChR (N9), then cross with cre recombinase deleter strain (N6 in C57BL/6) to remove neo−cassette, then one backcross to C57BL/6. |
| References |
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Information from EMMA
| Archiving centre | Karolinska Institutet, Stockholm, Sweden |
| Stage of embryos | 2-cell |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Acroosteolysis-keloid-like lesions-premature aging syndrome / Orphanet_363665
- Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome / Orphanet_477831
- Infantile myofibromatosis / Orphanet_2591
- Bilateral striopallidodentate calcinosis / Orphanet_1980
MGI phenotypes (gene matching)
- abnormal angiogenesis / MGI
- abnormal heart morphology / MGI
- overriding aortic valve / MGI
- enlarged heart / MGI
- double outlet right ventricle / MGI
- schistocytosis / MGI
- short snout / MGI
- abnormal pulmonary artery morphology / MGI
- abnormal kidney blood vessel morphology / MGI
- kidney hemorrhage / MGI
- decreased body size / MGI
- anemia / MGI
- abnormal blood vessel morphology / MGI
- thymus hypoplasia / MGI
- hemorrhage / MGI
- intracranial hemorrhage / MGI
- perinatal lethality / MGI
- abnormal eye morphology / MGI
- abnormal kidney physiology / MGI
- no abnormal phenotype detected / MGI
- disorganized myocardium / MGI
- hydrops fetalis / MGI
- abnormal erythrocyte morphology / MGI
- micrognathia / MGI
- anisocytosis / MGI
- poikilocytosis / MGI
- dilated heart right ventricle / MGI
- abnormal retinal vasculature morphology / MGI
- increased vascular permeability / MGI
- retinal detachment / MGI
- dilated heart atrium / MGI
- cardiac fibrosis / MGI
- thrombocytopenia / MGI
- abnormal placenta vasculature / MGI
- abnormal embryonic hematopoiesis / MGI
- kidney cysts / MGI
- pallor / MGI
- abnormal pericyte morphology / MGI
- abnormal retinal layer morphology / MGI
- abnormal heart left ventricle morphology / MGI
- abnormal venule morphology / MGI
- right aortic arch / MGI
- abnormal basement membrane morphology / MGI
- abnormal trophoblast layer morphology / MGI
- polychromatophilia / MGI
- increased susceptibility to injury / MGI
- glomerulosclerosis / MGI
- abnormal renal glomerulus morphology / MGI
- abnormal mesangial cell morphology / MGI
- renal/urinary system phenotype / MGI
- homeostasis/metabolism phenotype / MGI
- cardiovascular system phenotype / MGI
- vision/eye phenotype / MGI
- decreased angiogenesis / MGI
- abnormal vascular endothelial cell morphology / MGI
- increased vascular endothelial cell number / MGI
- retinal hemorrhage / MGI
- eye hemorrhage / MGI
- clinodactyly / MGI
- decreased retinal ganglion cell number / MGI
- retinal ganglion cell degeneration / MGI
- absent podocytes / MGI
- increased heart ventricle size / MGI
- abnormal placental labyrinth vasculature morphology / MGI
- petechiae / MGI
- increased nucleated erythrocyte cell number / MGI
- eye opacity / MGI
- abnormal retinal blood vessel morphology / MGI
- abnormal retinal blood vessel pattern / MGI
- ventricular septal defect / MGI
- atrioventricular septal defect / MGI
- perimembraneous ventricular septal defect / MGI
- muscular ventricular septal defect / MGI
- kidney microaneurysm / MGI
- vascular ring / MGI
- abnormal left subclavian artery morphology / MGI
- postnatal lethality, incomplete penetrance / MGI
- perinatal lethality, incomplete penetrance / MGI
- lethality throughout fetal growth and development, incomplete penetrance / MGI
- decreased glomerular capillary number / MGI
- absent mesangial cell / MGI
- glomerulus hemorrhage / MGI
- decreased kidney cell proliferation / MGI
- glomerular capillary thrombosis / MGI
- skin hemorrhage / MGI
- purpura / MGI
- decreased fibroblast proliferation / MGI
- abnormal fibroblast migration / MGI
- decreased fibroblast apoptosis / MGI
- abnormal blood-retinal barrier function / MGI
- increased retinal apoptosis / MGI
Literature references
- A gain of function mutation in the activation loop of platelet-derived growth factor beta-receptor deregulates its kinase activity.;Chiara Federica, Goumans Marie-José, Forsberg Henrik, Ahgrén Aive, Rasola Andrea, Aspenström Pontus, Wernstedt Christer, Hellberg Carina, Heldin Carl-Henrik, Heuchel Rainer, ;2004;The Journal of biological chemistry;279;42516-27; 15284236
- Platelet-derived growth factor receptor-beta promotes early endothelial cell differentiation.;Rolny Charlotte, Nilsson Ingrid, Magnusson Peetra, Armulik Annika, Jakobsson Lars, Wentzel Parri, Lindblom Per, Norlin Jenny, Betsholtz Christer, Heuchel Rainer, Welsh Michael, Claesson-Welsh Lena, ;2006;Blood;108;1877-86; 16690964