Mouse Genome Informatics
ht1
    Btktm1Gsv/Btk+
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
• reduced numbers of mature IgM-IgD+ B cells
• deficiency of CD5+ B cells in the peritoneum for B cells expressing both the mutant and the wild-type allele

hematopoietic system
• decreased number of B220+ cells peripherally
• reduced numbers of mature IgM-IgD+ B cells
• deficiency of CD5+ B cells in the peritoneum for B cells expressing both the mutant and the wild-type allele


Mouse Genome Informatics
cx2
    Blnktm1Pjln/Blnktm1Pjln
Btktm1Gsv/Y

involves: 129P2/OlaHsd * BALB/c * C57BL/6
Key:
phenotype observed in females
phenotype observed in males
N normal phenotype
immune system
• dramatic reductions of mature IgM+IgD+ B cells in the bone marrow
• B cell development is completely blocked
• dramatic reductions of immature IgM+IgD- B cells in the bone marrow
• IgG3 severely reduced
• severely reduced

tumorigenesis
• increased frequency of pre-B cell lymphomas

hematopoietic system
• dramatic reductions of mature IgM+IgD+ B cells in the bone marrow
• B cell development is completely blocked
• dramatic reductions of immature IgM+IgD- B cells in the bone marrow
• IgG3 severely reduced
• severely reduced


Mouse Genome Informatics
cx3
    Blnktm1Pjln/Blnktm1Pjln
Btktm1Gsv/Y
Tg(CD19-BTK*K430R)XK24Rwhe/?

involves: 129P2/OlaHsd * BALB/c * C57BL/6 * FVB
Key:
phenotype observed in females
phenotype observed in males
N normal phenotype
immune system
• B cell development is partially restored, by about 4-7 fold
• some differentiation into mature B cells occurs
• recirculationg B cell population in the bone marrow is improved
• IgG3 levels remain severely reduced
• improved or restored

tumorigenesis
N
• tumor suppressor function is restored

hematopoietic system
• B cell development is partially restored, by about 4-7 fold
• some differentiation into mature B cells occurs
• recirculationg B cell population in the bone marrow is improved
• IgG3 levels remain severely reduced
• improved or restored


Mouse Genome Informatics
cx4
    Btktm1Gsv/Y
Tg(CD19-BTK*K430R)XK24Rwhe/?

involves: 129P2/OlaHsd * C57BL/6 * FVB
Key:
phenotype observed in females
phenotype observed in males
N normal phenotype
immune system
N
• calcium signaling of splenic B cells is restored
• B cell apoptosis is reduced compared to similar mice lacking the transgene
• restored B220+ cell numbers peripherally
• deficiency of CD5+ B cells in the peritoneum remains
• differentiation is partially restored
• decreased lambda light chain usage

hematopoietic system
• B cell apoptosis is reduced compared to similar mice lacking the transgene
• restored B220+ cell numbers peripherally
• deficiency of CD5+ B cells in the peritoneum remains
• differentiation is partially restored
• decreased lambda light chain usage

cellular
• B cell apoptosis is reduced compared to similar mice lacking the transgene


Mouse Genome Informatics
ot5
    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