References
Query Results -- Details
MGI Accession ID: MGI:61415
J Number: J:13209
Other Accession IDs:
Title: Mutation of unique region of Bruton's tyrosine kinase in immunodeficient XID mice.
Authors: Rawlings DJ; Saffran DC; Tsukada S; Largaespada DA; Grimaldi JC; Cohen L; Mohr RN; Bazan JF; Howard M; Copeland NG; Jenkins NA; Witte ON
Journal: Science
Volume: 261
Issue: 5119
Date: 1993 Jul 16
Year: 1993
Pages: 358-61
Review Status: Peer Reviewed
Abstract:
The cytoplasmic tyrosine kinase, Bruton's tyrosine kinase (Btk, formerly bpk or atk), is crucial for B cell development. Loss of kinase activity results in the human immunodeficiency, X-linked agammaglobulinemia, characterized by a failure to produce B cells. In the murine X-linked immunodeficiency (XID), B cells are present but respond abnormally to activating signals. The Btk gene, btk, was mapped to the xid region of the mouse X chromosome by interspecific backcross analysis. A single conserved residue within the amino terminal unique region of Btk was mutated in XID mice. This change in xid probably interferes with normal B cell signaling mediated by Btk protein interactions.
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