Mouse Genome Informatics
ht1
    Btktm1Gsv/Btk+
involves: 129P2/OlaHsd * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
immune system
• decreased number of B220+ cells peripherally (J:35769)
• reduced numbers of mature IgM-IgD+ B cells (J:35769)
• deficiency of CD5+ B cells in the peritoneum for B cells expressing both the mutant and the wild-type allele (J:35769)

hematopoietic system
• decreased number of B220+ cells peripherally (J:35769)
• reduced numbers of mature IgM-IgD+ B cells (J:35769)
• deficiency of CD5+ B cells in the peritoneum for B cells expressing both the mutant and the wild-type allele (J:35769)


Mouse Genome Informatics
cx2
    Blnktm1Pjln/Blnktm1Pjln
Btktm1Gsv/Y

involves: 129P2/OlaHsd * BALB/c * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
immune system
• dramatic reductions of mature IgM+IgD+ B cells in the bone marrow (J:94768)
• B cell development is completely blocked (J:94768)
• dramatic reductions of immature IgM+IgD- B cells in the bone marrow (J:94768)
• IgG3 severely reduced (J:94768)
• severely reduced (J:94768)

tumorigenesis
• increased frequency of pre-B cell lymphomas (J:94768)

hematopoietic system
• dramatic reductions of mature IgM+IgD+ B cells in the bone marrow (J:94768)
• B cell development is completely blocked (J:94768)
• dramatic reductions of immature IgM+IgD- B cells in the bone marrow (J:94768)
• IgG3 severely reduced (J:94768)
• severely reduced (J:94768)


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 WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
immune system
• B cell development is partially restored, by about 4-7 fold (J:94768)
• some differentiation into mature B cells occurs (J:94768)
• recirculationg B cell population in the bone marrow is improved (J:94768)
• IgG3 levels remain severely reduced (J:94768)
• improved or restored (J:94768)

tumorigenesis
N
• tumor suppressor function is restored (J:94768)

hematopoietic system
• B cell development is partially restored, by about 4-7 fold (J:94768)
• some differentiation into mature B cells occurs (J:94768)
• recirculationg B cell population in the bone marrow is improved (J:94768)
• IgG3 levels remain severely reduced (J:94768)
• improved or restored (J:94768)


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

involves: 129P2/OlaHsd * C57BL/6 * FVB
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
immune system
N
• calcium signaling of splenic B cells is restored (J:94768)
• B cell apoptosis is reduced compared to similar mice lacking the transgene (J:120989)
• restored B220+ cell numbers peripherally (J:120989)
• deficiency of CD5+ B cells in the peritoneum remains (J:120989)
• differentiation is partially restored (J:120989)
• decreased lambda light chain usage (J:120989)

hematopoietic system
• B cell apoptosis is reduced compared to similar mice lacking the transgene (J:120989)
• restored B220+ cell numbers peripherally (J:120989)
• deficiency of CD5+ B cells in the peritoneum remains (J:120989)
• differentiation is partially restored (J:120989)
• decreased lambda light chain usage (J:120989)

cellular
• B cell apoptosis is reduced compared to similar mice lacking the transgene (J:120989)


Mouse Genome Informatics
ot5
    Btktm1Gsv/Y
involves: 129P2/OlaHsd * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
immune system
• decreased number of B220+ cells peripherally (J:35769)
• thymocyte and T cell numbers are unaffected (J:35769)
• mature IgMlowIgDhigh are nearly absent (J:35769)
• deficiency of CD5+ B cells in the peritoneum (J:35769)
• development through to large pre-B cell stage is normal (J:35769)
• transition from pre-B to immature B cell is impaired (J:35769)
• reduced IgM+IgD- to about 70% of normal numbers at 5 weeks of age (J:35769)
• significantly reduced calcium signaling in splenic B cells (J:94768)
• decreased lambda light chain usage (J:120989)
• IgG3 reduced 20% at 5 weeks of age (J:35769)
• reduced 50% at 5 weeks of age (J:35769)
• no response to T cell independent type II antigens (J:120989)

hematopoietic system
• decreased number of B220+ cells peripherally (J:35769)
• thymocyte and T cell numbers are unaffected (J:35769)
• mature IgMlowIgDhigh are nearly absent (J:35769)
• deficiency of CD5+ B cells in the peritoneum (J:35769)
• development through to large pre-B cell stage is normal (J:35769)
• transition from pre-B to immature B cell is impaired (J:35769)
• reduced IgM+IgD- to about 70% of normal numbers at 5 weeks of age (J:35769)
• significantly reduced calcium signaling in splenic B cells (J:94768)
• decreased lambda light chain usage (J:120989)
• IgG3 reduced 20% at 5 weeks of age (J:35769)
• reduced 50% at 5 weeks of age (J:35769)

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