| First Author | Thomas JD | Year | 1993 |
| Journal | Science | Volume | 261 |
| Issue | 5119 | Pages | 355-8 |
| PubMed ID | 8332900 | Mgi Jnum | J:13210 |
| Mgi Id | MGI:61416 | Doi | 10.1126/science.8332900 |
| Citation | Thomas JD, et al. (1993) Colocalization of X-linked agammaglobulinemia and X-linked immunodeficiency genes. Science 261(5119):355-8 |
| abstractText | Mice that bear the X-linked immunodeficiency (xid) mutation have a B lymphocyte-specific defect resulting in an inability to make antibody responses to polysaccharide antigens. A backcross of 1114 progeny revealed the colocalization of xid with Bruton's agammaglobulinemia tyrosine kinase (btk) gene, which is implicated in the human immune deficiency, X-linked agammaglobulinemia. Mice that carry xid have a missense mutation that alters a highly conserved arginine near the amino-terminus of the btk protein, Btk. Because this region of Btk lies outside any obvious kinase domain, the xid mutation may define another aspect of tyrosine kinase function. |
