IMPC phenotypes (gene matching)
B6.129S4-Pdgfrbtm3Sor/Kctt
| Status | Available to order |
| EMMA ID | EM:02258 |
| International strain name | B6.129S4-Pdgfrbtm3Sor/Kctt |
| Alternative name | PdgfrbdeltaPI3K-binding sites |
| Strain type | Targeted Mutant Strains : Knock-in |
| Allele/Transgene symbol | Pdgfrbtm3Sor |
| Gene/Transgene symbol | Pdgfrb |
Information from provider
| Provider | Rainer Heuchel |
| Provider affiliation | Ludwig Institute for Cancer Research |
| Genetic information | A to T transversions in the sequences corresponding to codons 739 and 750 were introduced that altered the corresponding amino acids from tyrosine to phenylalanine. This mutation is predicted to disrupt the PI3-K binding sites of the protein. A loxP flanked neomycin cassette was inserted into an adjacent intron. |
| Phenotypic information | No overt phenotype. |
| References |
|
Information from EMMA
| Archiving centre | Karolinska Institutet, Stockholm, Sweden |
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 (allele matching)
- abnormal pericyte morphology / MGI
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
- Platelet-derived growth factor beta receptor regulates interstitial fluid homeostasis through phosphatidylinositol-3' kinase signaling.;Heuchel R, Berg A, Tallquist M, Ahlén K, Reed R K, Rubin K, Claesson-Welsh L, Heldin C H, Soriano P, ;1999;Proceedings of the National Academy of Sciences of the United States of America;96;11410-5; 10500190
- Visual masking following transient adaptation.;Banderet L E, Payne W H, ;1971;Journal of the Optical Society of America;61;955-8; 5087386