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
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