IMPC phenotypes (gene matching)
B6.Cg-Pdgfrbtm1.1Rheu/Kctt
| Status | Available to order |
| EMMA ID | EM:02257 |
| 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