Mouse Genome Informatics
hm1
    Btktm1Wk/Btktm1Wk
involves: 129S4/SvJae * C57BL/6
Key:
phenotype observed in females
phenotype observed in males
N normal phenotype
hematopoietic system
• decreased numbers of mature B cells (J:28968)
• numbers of mature recirculating B cells (B220highIgM+, HSAlowIgM+, and B220+IgD+) are reduced (J:82298)
• partial arrest of B cell development
• defective B cell activation after immunization with T-independent type II antigens
• in vitro, B cells show a reduced level of proliferation in response to LPS compared to wild-type
• increased numbers of pro-B cells
• germinal centers are infrequent in TNP-LPS immunized mutants
• germinal centers are smaller in TNP-LPS immunized mutants
• decreased serum IgG3 concentration (J:28968)
(J:82298)
• decreased serum IgM concentration (J:28968)
(J:82298)

immune system
• decreased numbers of mature B cells (J:28968)
• numbers of mature recirculating B cells (B220highIgM+, HSAlowIgM+, and B220+IgD+) are reduced (J:82298)
• partial arrest of B cell development
• defective B cell activation after immunization with T-independent type II antigens
• in vitro, B cells show a reduced level of proliferation in response to LPS compared to wild-type
• increased numbers of pro-B cells
• germinal centers are infrequent in TNP-LPS immunized mutants
• germinal centers are smaller in TNP-LPS immunized mutants
• decreased serum IgG3 concentration (J:28968)
(J:82298)
• decreased serum IgM concentration (J:28968)
(J:82298)
• smaller and fewer germinal centers are observed in response to TI-I antigen, TNP-LPS

Mouse Models of Human Disease
OMIM IDRef(s)
Agammaglobulinemia, X-Linked; XLA 300755 J:28968


Mouse Genome Informatics
ht2
    Btktm1Witt/Btktm1Wk
involves: 129S4/SvJae * 129X1/SvJ
Key:
phenotype observed in females
phenotype observed in males
N normal phenotype
immune system
N
• B cell development and activation are normal and no other obvious abnormalities are seen


Mouse Genome Informatics
cx3
    Btktm1Wk/Btktm1Wk
Tectm1Welm/Tectm1Welm

involves: 129P2/OlaHsd * C57BL/6
Key:
phenotype observed in females
phenotype observed in males
N normal phenotype
hematopoietic system
• accumulation of CD43+ B cell precursors, indicating partial developmental block
• partial block at large pre-B cell stage
• failure to respond to IgM
• attenuated response to LPS
• reduced platelet spreading on collagen, but not fibrinogen, monolayer
• reduced aggregation in response to high concentrations of collagen-related peptide (CRP) and to collagen
• abolished aggregation in response to low concentrations of collagen-related peptide (CRP) and to collagen
• no alterations in aggregation in response to ADP

immune system
• accumulation of CD43+ B cell precursors, indicating partial developmental block
• partial block at large pre-B cell stage
• failure to respond to IgM
• attenuated response to LPS
• failure to respond to thymus-independent antigen (TNP-Ficoll)
• failure to respond to thymus-dependent antigen (TNP-KLH adsorbed on aluminum hydroxide)

homeostasis/metabolism
• reduced platelet spreading on collagen, but not fibrinogen, monolayer
• reduced aggregation in response to high concentrations of collagen-related peptide (CRP) and to collagen
• abolished aggregation in response to low concentrations of collagen-related peptide (CRP) and to collagen
• no alterations in aggregation in response to ADP

Mouse Models of Human Disease
OMIM IDRef(s)
Agammaglobulinemia, X-Linked; XLA 300755 J:66080


Mouse Genome Informatics
cx4
    Blnktm1Achn/Blnk+
Btktm1Wk/Btktm1Wk
Tg(IGH-Btk)1Witt/0

involves: 129S4/SvJae * 129X1/SvJ * BALB/c * C3H * C57BL/6
Key:
phenotype observed in females
phenotype observed in males
N normal phenotype
immune system
• impairment in the early and late phases of Ca2+ mobilization following BCR stimulation
• fail to proliferate after BCR cross linking
• following cross linking the frequency of cycling cells is reduced and the percentage of cells with greater than 2N DNA is increased

hematopoietic system
• impairment in the early and late phases of Ca2+ mobilization following BCR stimulation
• fail to proliferate after BCR cross linking
• following cross linking the frequency of cycling cells is reduced and the percentage of cells with greater than 2N DNA is increased


Mouse Genome Informatics
cx5
    Btktm1Wk/Btktm1Wk
Tg(IGH-Btk)1Witt/0

involves: 129S4/SvJae * 129X1/SvJ * BALB/c * C3H * C57BL/6
Key:
phenotype observed in females
phenotype observed in males
N normal phenotype
immune system
• following cross linking the frequency of cycling cells is reduced and the percentage of cells with greater than 2N DNA is increased

hematopoietic system
• following cross linking the frequency of cycling cells is reduced and the percentage of cells with greater than 2N DNA is increased


Mouse Genome Informatics
cx6
    Blnktm1Pjln/Blnktm1Pjln
Btktm1Wk/Btktm1Wk

involves: 129S4/SvJae * BALB/c * C57BL/6
Key:
phenotype observed in females
phenotype observed in males
N normal phenotype
hematopoietic system
• arrested B cell development at the pre-B stage

immune system
• arrested B cell development at the pre-B stage

Mouse Models of Human Disease
OMIM IDRef(s)
Agammaglobulinemia, X-Linked; XLA 300755 J:70406


Mouse Genome Informatics
cx7
    Btktm1Wk/Btktm1Wk
Cd40tm1Geha/Cd40tm1Geha

involves: 129S4/SvJae * C57BL/6
Key:
phenotype observed in females
phenotype observed in males
N normal phenotype
hematopoietic system
• severe deficiency of B cells in the spleen and lymph nodes compared to single Btk homozygotes; total numbers of B220+IgM+ B cells in the spleen are 3-4 fold reduced relative to single Btk homozygotes and 7-8 fold reduced relative to wild-type or single Cd40 homozygotes
• B cell deficiency is more severe in the lymph node than in spleen
• mature recirculating B cells (B220highIgM+, HSAlowIgM+, and B220+IgD+) are reduced more than in single Btk homozygotes
• in vitro, B cells show a reduced level of proliferation in response to LPS compared to wild-type
• absence of germinal center formation in response to TI-I antigen stimulation
• 40-fold reduction compared to single CD40 homozygote
• similar decrease to that seen in single CD40 homozygotes
• 10-fold reduction compared to single CD40 homozygote
• similar decrease to that seen in single Btk homozygotes
• 7-fold reduction compared to single Btk homozygote

immune system
• severe deficiency of B cells in the spleen and lymph nodes compared to single Btk homozygotes; total numbers of B220+IgM+ B cells in the spleen are 3-4 fold reduced relative to single Btk homozygotes and 7-8 fold reduced relative to wild-type or single Cd40 homozygotes
• B cell deficiency is more severe in the lymph node than in spleen
• mature recirculating B cells (B220highIgM+, HSAlowIgM+, and B220+IgD+) are reduced more than in single Btk homozygotes
• in vitro, B cells show a reduced level of proliferation in response to LPS compared to wild-type
• absence of germinal center formation in response to TI-I antigen stimulation
• absence of germinal center formation in response to TI-I antigen stimulation
• defective IgM and IgG response to TI antigen and TD antigen stimulation
• 40-fold reduction compared to single CD40 homozygote
• similar decrease to that seen in single CD40 homozygotes
• 10-fold reduction compared to single CD40 homozygote
• similar decrease to that seen in single Btk homozygotes
• 7-fold reduction compared to single Btk homozygote