- abnormal platelet aggregation / MGI
- cardiovascular system phenotype / MGI
- increased neutrophil cell number / MGI
- abnormal intestinal epithelium morphology / MGI
- crypts of Lieberkuhn abscesses / MGI
- abnormal intestinal mucosa morphology / MGI
- spleen hypoplasia / MGI
- decreased IgM level / MGI
- decreased IgA level / MGI
- intestinal inflammation / MGI
- abnormal B cell differentiation / MGI
- abnormal Peyer's patch germinal center morphology / MGI
- decreased immunoglobulin level / MGI
- decreased B-1 B cell number / MGI
- absent spleen germinal center / MGI
C.129P2-Pik3cdtm1.1Bvan/Orl
Status | Available to order |
EMMA ID | EM:11500 |
International strain name | C.129P2-Pik3cdtm1.1Bvan/Orl |
Alternative name | p110delta PI3K-D910A-Myc (Balb/C) |
Strain type | Targeted Mutant Strains : Knock-in |
Allele/Transgene symbol | Pik3cdtm1.1Bvan |
Gene/Transgene symbol | Pik3cd |
Information from provider
Provider | Bart Vanhaesebroeck |
Provider affiliation | UCL Cancer Institute, University College London |
Additional owner | Co-developed by the Ludwig Institute for Cancer Research (LICR) and the University of Edinburgh, UK. The materials are available to academic researchers. Commercial entity need to obtain a licensing agreement. |
Genetic information | Knock-in mice in which the endogenous PIK3CD/p110delta PI3K gene is mutated so that it now encodes a p110delta protein with (1) the D910A mutation in the ATP binding site, converting it to a kinase-dead p110delta protein which is expressed at the same level as wild-type p110delta; (2) a C-terminal Myc-epitope tag. Backcrossed onto BALB/c background. |
Phenotypic information | Homozygous:Mice have altered immune system and can develop colitis.Heterozygous:Mice show intermediate phenotypes between homozygous knock-in and wild-type but this has not been extensively characterised (see Fig. 2A in PMID:16179367) |
Breeding history | Backcrossed onto BALB/c for more than 10 generations. |
References |
|
Homozygous fertile | yes |
Homozygous viable | yes |
Homozygous matings required | no |
Immunocompromised | yes |
Information from EMMA
Archiving centre | Institut de Transgenose, INTRAGENE, Orléans, France |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Activated PI3K-delta syndrome / Orphanet_397596
- Combined immunodeficiency with faciooculoskeletal anomalies / Orphanet_221139
MGI phenotypes (allele matching)
MGI phenotypes (gene matching)
- increased leukocyte cell number / MGI
- increased neutrophil cell number / MGI
- abnormal intestinal epithelium morphology / MGI
- crypts of Lieberkuhn abscesses / MGI
- abnormal intestinal mucosa morphology / MGI
- small spleen / MGI
- spleen hypoplasia / MGI
- impaired hematopoiesis / MGI
- abnormal humoral immune response / MGI
- decreased IgG level / MGI
- decreased IgM level / MGI
- decreased IgA level / MGI
- intestinal inflammation / MGI
- decreased inflammatory response / MGI
- abnormal B cell differentiation / MGI
- small lymph nodes / MGI
- abnormal Peyer's patch germinal center morphology / MGI
- increased susceptibility to viral infection / MGI
- abnormal B cell physiology / MGI
- decreased immunoglobulin level / MGI
- increased IgE level / MGI
- no phenotypic analysis / MGI
- decreased susceptibility to induced arthritis / MGI
- decreased B-1 B cell number / MGI
- increased lymphocyte cell number / MGI
- decreased B cell number / MGI
- decreased B cell proliferation / MGI
- cardiovascular system phenotype / MGI
- immune system phenotype / MGI
- decreased B-1a cell number / MGI
- decreased marginal zone B cell number / MGI
- absent B-1 B cells / MGI
- decreased B-2 B cell number / MGI
- decreased mature B cell number / MGI
- absent spleen germinal center / MGI
- decreased IgG1 level / MGI
- decreased IgG2a level / MGI
- decreased IgG2b level / MGI
- decreased IgG3 level / MGI
- increased circulating interferon-alpha level / MGI
- abnormal platelet aggregation / MGI
- decreased response to antigen / MGI
- increased response to antigen / MGI
Literature references
- Impaired B and T cell antigen receptor signaling in p110delta PI 3-kinase mutant mice.;Okkenhaug Klaus, Bilancio Antonio, Farjot Géraldine, Priddle Helen, Sancho Sara, Peskett Emma, Pearce Wayne, Meek Stephen E, Salpekar Ashreena, Waterfield Michael D, Smith Andrew J H, Vanhaesebroeck Bart, ;2002;Science (New York, N.Y.);297;1031-4; 12130661
- Inactivation of PI(3)K p110δ breaks regulatory T-cell-mediated immune tolerance to cancer.;Ali Khaled, Soond Dalya R, Pineiro Roberto, Hagemann Thorsten, Pearce Wayne, Lim Ee Lyn, Bouabe Hicham, Scudamore Cheryl L, Hancox Timothy, Maecker Heather, Friedman Lori, Turner Martin, Okkenhaug Klaus, Vanhaesebroeck Bart, ;2014;Nature;510;407-411; 24919154
Information on how we integrate external resources can be found here
INFRAFRONTIER® and European Mouse Mutant Archive - EMMA® are registered trademarks at the European Union Intellectual Property Office (EUIPO).