Symbol Name ID |
Pik3r1
phosphoinositide-3-kinase regulatory subunit 1 MGI:97583 |
Darker colors indicate more annotations |
Human Phenotypes | Decreased circulating IgA concentration |
Decreased circulating IgG concentration |
Increased circulating IgM level |
Agammaglobulinemia |
Panhypogammaglobulinemia |
Neutropenia |
Increased proportion of transitional B cells |
B lymphocytopenia |
Decreased proportion of naive CD4 T cells |
Decreased proportion of naive CD8 T cells |
Lymphopenia |
Reduced natural killer cell count |
Abnormal T cell morphology |
Chronic lymphatic leukemia |
Recurrent upper respiratory tract infections |
Persistent CMV viremia |
Persistent EBV viremia |
Splenomegaly |
Enlarged tonsils |
Abnormality of the immune system |
Erythema nodosum |
Autoimmunity |
Immunodeficiency |
Recurrent infections |
Recurrent bacterial infections |
Recurrent respiratory infections |
Recurrent lower respiratory tract infections |
Disease(s) Associated with PIK3R1 | |||||||||||||||||||||||||||
agammaglobulinemia 7 | |||||||||||||||||||||||||||
immunodeficiency 36 | |||||||||||||||||||||||||||
SHORT syndrome |
Mouse Phenotypes | decreased B cell proliferation |
abnormal B cell differentiation |
decreased immature B cell number |
decreased pro-B cell number |
increased pro-B cell number |
arrested B cell differentiation |
decreased mature B cell number |
decreased B-1 B cell number |
decreased B-1a cell number |
decreased B-1b cell number |
decreased B-2 B cell number |
increased B-1b cell number |
decreased B cell number |
decreased pre-B cell number |
increased CD4-positive, CD25-positive, alpha-beta regulatory T cell number |
increased CD8-positive, alpha-beta memory T cell number |
decreased NK T cell number |
abnormal B cell physiology |
abnormal humoral immune response |
increased susceptibility to bacterial infection |
|
Availability | Mouse Genotype | ||||||||||||||||||||
Pik3r1m1Btlr/Pik3r1m1Btlr | |||||||||||||||||||||
Pik3r1m3Btlr/Pik3r1m3Btlr | |||||||||||||||||||||
Pik3r1tm1Dfr/Pik3r1tm1Dfr | |||||||||||||||||||||
Pik3r1tm1Tka/Pik3r1tm1Tka | |||||||||||||||||||||
Pik3r1tm2Dfr/Pik3r1tm2Dfr | |||||||||||||||||||||
Pik3r1M2Btlr/Pik3r1+ |
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
||
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support. |
last database update 08/21/2024 MGI 6.24 |
|
|