Mouse Genome Informatics
ot
    Btktm1Gsv/Y
involves: 129P2/OlaHsd * C57BL/6
Key:
phenotype observed in females
phenotype observed in males
N normal phenotype
immune system
• decreased number of B220+ cells peripherally
• thymocyte and T cell numbers are unaffected
• mature IgMlowIgDhigh are nearly absent
• deficiency of CD5+ B cells in the peritoneum
• development through to large pre-B cell stage is normal
• transition from pre-B to immature B cell is impaired
• reduced IgM+IgD- to about 70% of normal numbers at 5 weeks of age
• significantly reduced calcium signaling in splenic B cells
• decreased lambda light chain usage
• IgG3 reduced 20% at 5 weeks of age
• reduced 50% at 5 weeks of age
• no response to T cell independent type II antigens

hematopoietic system
• decreased number of B220+ cells peripherally
• thymocyte and T cell numbers are unaffected
• mature IgMlowIgDhigh are nearly absent
• deficiency of CD5+ B cells in the peritoneum
• development through to large pre-B cell stage is normal
• transition from pre-B to immature B cell is impaired
• reduced IgM+IgD- to about 70% of normal numbers at 5 weeks of age
• significantly reduced calcium signaling in splenic B cells
• decreased lambda light chain usage
• IgG3 reduced 20% at 5 weeks of age
• reduced 50% at 5 weeks of age

Mouse Models of Human Disease
OMIM IDRef(s)
Agammaglobulinemia, X-Linked; XLA 300755 J:35769