Symbol
Name
ID

Btk
Bruton agammaglobulinemia tyrosine kinase
MGI:88216

Phenotype annotations related to immune system

*	Aspects of the system are reported to show a normal phenotype.
!	Indicates phenotype varies with strain background.
	Darker colors indicate more annotations

Human Phenotypes

Decreased circulating IgA level

Decreased circulating IgE

Decreased circulating IgG level

Decreased circulating total IgM

Agammaglobulinemia

Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine

Panhypogammaglobulinemia

Neutropenia

B lymphocytopenia

Absent circulating B cells

Abnormal T cell count

Decreased proportion of CD4-positive helper T cells

T lymphocytopenia

Sinusitis

Recurrent sinusitis

Conjunctivitis

Abnormality of the lymphatic system

Abnormal lymph node morphology

Lymph node hypoplasia

Abnormality of the spleen

Abnormality of the tonsils

Hepatitis

Enteroviral hepatitis

Chronic otitis media

Recurrent otitis media

Epididymitis

Prostatitis

Recurrent urinary tract infections

Recurrent cutaneous abscess formation

Pyoderma

Skin rash

Osteomyelitis

Pneumonia

Recurrent pneumonia

Autoimmunity

Immunodeficiency

Sepsis

Recurrent infections

Recurrent bacterial infections

Recurrent lower respiratory tract infections

Recurrent enteroviral infections

Enteroviral dermatomyositis syndrome

Infectious encephalitis

Meningitis

Cellulitis

Disease(s) Associated with BTK

Burkitt lymphoma

isolated growth hormone deficiency type III

X-linked agammaglobulinemia

Mouse Phenotypes

immune system phenotype

abnormal B cell proliferation

decreased B cell proliferation

impaired neutrophil phagocytosis

increased susceptibility to induced colitis

abnormal lymphopoiesis

abnormal B cell differentiation

decreased immature B cell number

decreased transitional stage B cell number

increased immature B cell number

increased pro-B cell number

impaired myelopoiesis

decreased neutrophil cell number

decreased mature B cell number

absent mature B cells

decreased B-1 B cell number

absent B-1a cells

decreased follicular B cell number

decreased B cell number

increased CD4-positive, alpha-beta T cell number

abnormal leukocyte morphology

abnormal pre-B cell morphology

spleen hypoplasia

decreased spleen germinal center number

decreased spleen germinal center size

decreased splenocyte number

abnormal neutrophil physiology

abnormal B cell physiology

abnormal B cell activation

decreased IgD level

increased IgE level

decreased IgG3 level

increased IgG level

decreased IgM level

increased IgM level

decreased immunoglobulin level

abnormal macrophage physiology

abnormal lymph node germinal center morphology

abnormal immune system physiology

abnormal humoral immune response

autoimmune response

decreased susceptibility to experimental autoimmune encephalomyelitis

decreased acute inflammation

increased susceptibility to bacterial infection induced morbidity/mortality

Availability

Mouse Genotype

Btk^m1Anu/Btk^m1Anu

Btk^m2Anu/Btk^m2Anu

Btk^tm1Wk/Btk^tm1Wk

Btk^tm1Wk/Btk^tm1Wk
Tg(IGH-Btk)1Witt/0

Btk^vila/Btk^vila

Btk^xid/Btk^xid

Btk^xid/?
Tg(IGH-Btk)1Witt/Tg(IGH-Btk)1Witt

Btk^tm1Gsv/Btk⁺

Btk^tm1Witt/Btk^tm1Wk

Btk^{tm1a(EUCOMM)Hmgu}/Y

Btk^tm1Gsv/Y

Btk^xid/Y

Btk^xid/?
Tg(IGH-Btk)1Witt/0

Btk^xid/?

Contributing Projects: 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 04/23/2024 MGI 6.23