- 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
B6.129P2(C)-Pik3cdtm1.1Bvan/Orl
Status | Available to order |
EMMA ID | EM:11499 |
International strain name | B6.129P2(C)-Pik3cdtm1.1Bvan/Orl |
Alternative name | p110delta PI3K-D910A-Myc (B6) |
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 C57BL/6J 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 C57BL/6J 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)
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
INFRAFRONTIER® and European Mouse Mutant Archive - EMMA® are registered trademarks at the European Union Intellectual Property Office (EUIPO).