B6.CBA-Btk^xid/AllmJ

Stock number: 009361
Research areas: Immunology, Inflammation and Autoimmunity Research, Mouse/Human Gene Homologs, Research Tools

Description

Mice carrying this X-linked spontaneous mutation in the Bruton agammaglobulinemia tyrosine kinase gene (Btk) are a model of human X-linked immunodeficiency. Mice exhibit reduced numbers of B cells, and defects in B cell maturation.

Detailed description

Mice carrying this X-linked spontaneous mutation in the Bruton agammaglobulinemia tyrosine kinase gene (Btk) are a model of human X-linked immunodeficiency. They have a B-lymphocyte-specific defect that results in an inability to launch an antibody response to thymus-independent type II antigens, although they do produce normal amounts of antibody in response to some protein antigens. They have low serum IgM and IgG3 and a reduced number of B-cells. Moreover, the B-cells that are present have a reduced surface IgM to IgD ratio, which suggests a disorder in B-cell maturation.

Development

The X-linked immunodeficiency spontaneous mutation was first observed in the CBA/HN colony at the NIH in the early 1970s. The mutation was backcrossed to C57BL/6 and held for many years at the NIH. The C57BL/6 congenic was transferred to Dr. Robert Lindsley at the University of Massachusetts in the late 1990s and then to Dr. David Allman at the University of Pennsylvania, both of whom maintained it by sibling matings. Dr. Allman donated the strain to the Repository in 2009.

Allele

Symbol: Btk^xid
Name: X linked immune deficiency
MGI accession ID: MGI:1856317
Generation method: Spontaneous
Synonyms: xid
Marker symbol: Btk
Marker name: Bruton agammaglobulinemia tyrosine kinase
Marker synonyms: AGMX1; AT; ATK; BPK; Bruton's tyrosine kinase; IGHD3; IMD1; PSCTK1; xid; XLA; X-linked immune deficiency
Chromosome: X
Strain of origin: CBA/HN
Molecular note: The C to T substitution at coding nucleotide 82 changes codon 28 from an arginine to a cysteine (p.R28C).