- abnormal pericyte morphology / MGI
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 |
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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)
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
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