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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Btktm1Wk
targeted mutation 1, Wasif Kahn
MGI:1857138
Summary 7 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Btktm1Wk/Btktm1Wk involves: 129S4/SvJae * C57BL/6 MGI:2651673
ht2
Btktm1Witt/Btktm1Wk involves: 129S4/SvJae * 129X1/SvJ MGI:3617230
cx3
Btktm1Wk/Btktm1Wk
Tectm1Welm/Tectm1Welm
involves: 129P2/OlaHsd * C57BL/6 MGI:3028887
cx4
Blnktm1Achn/Blnk+
Btktm1Wk/Btktm1Wk
Tg(IGH-Btk)1Witt/0
involves: 129S4/SvJae * 129X1/SvJ * BALB/c * C3H * C57BL/6 MGI:3836561
cx5
Btktm1Wk/Btktm1Wk
Tg(IGH-Btk)1Witt/0
involves: 129S4/SvJae * 129X1/SvJ * BALB/c * C3H * C57BL/6 MGI:3836562
cx6
Blnktm1Pjln/Blnktm1Pjln
Btktm1Wk/Btktm1Wk
involves: 129S4/SvJae * BALB/c * C57BL/6 MGI:2652543
cx7
Btktm1Wk/Btktm1Wk
Cd40tm1Geha/Cd40tm1Geha
involves: 129S4/SvJae * C57BL/6 MGI:2655323


Genotype
MGI:2651673
hm1
Allelic
Composition
Btktm1Wk/Btktm1Wk
Genetic
Background
involves: 129S4/SvJae * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Btktm1Wk mutation (1 available); any Btk mutation (10 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hematopoietic system
• partial arrest of B cell development (J:28968)
• partial arrest of B cell development (J:28968)
• increased numbers of pro-B cells (J:28968)
• increased numbers of pro-B cells (J:28968)
• decreased numbers of mature B cells (J:28968)
• decreased numbers of mature B cells (J:28968)
• numbers of mature recirculating B cells (B220highIgM+, HSAlowIgM+, and B220+IgD+) are reduced (J:82298)
• numbers of mature recirculating B cells (B220highIgM+, HSAlowIgM+, and B220+IgD+) are reduced (J:82298)
• germinal centers are infrequent in TNP-LPS immunized mutants (J:82298)
• germinal centers are infrequent in TNP-LPS immunized mutants (J:82298)
• germinal centers are smaller in TNP-LPS immunized mutants (J:82298)
• germinal centers are smaller in TNP-LPS immunized mutants (J:82298)
• defective B cell activation after immunization with T-independent type II antigens (J:28968)
• defective B cell activation after immunization with T-independent type II antigens (J:28968)
• in vitro, B cells show a reduced level of proliferation in response to LPS compared to wild-type (J:82298)
• in vitro, B cells show a reduced level of proliferation in response to LPS compared to wild-type (J:82298)
• decreased serum IgG3 concentration (J:28968)
• decreased serum IgG3 concentration (J:28968)
(J:82298)
(J:82298)
• decreased serum IgM concentration (J:28968)
• decreased serum IgM concentration (J:28968)
(J:82298)
(J:82298)

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

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




Genotype
MGI:3617230
ht2
Allelic
Composition
Btktm1Witt/Btktm1Wk
Genetic
Background
involves: 129S4/SvJae * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Btktm1Witt mutation (0 available); any Btk mutation (10 available)
Btktm1Wk mutation (1 available); any Btk mutation (10 available)
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 (J:104167)
• B cell development and activation are normal and no other obvious abnormalities are seen (J:104167)




Genotype
MGI:3028887
cx3
Allelic
Composition
Btktm1Wk/Btktm1Wk
Tectm1Welm/Tectm1Welm
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Btktm1Wk mutation (1 available); any Btk mutation (10 available)
Tectm1Welm mutation (0 available); any Tec mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hematopoietic system
• partial block at large pre-B cell stage (J:66080)
• partial block at large pre-B cell stage (J:66080)
(J:66080)
(J:66080)
• accumulation of CD43+ B cell precursors, indicating partial developmental block (J:66080)
• accumulation of CD43+ B cell precursors, indicating partial developmental block (J:66080)
(J:66080)
(J:66080)
• failure to respond to IgM (J:66080)
• attenuated response to LPS (J:66080)
• failure to respond to IgM (J:66080)
• attenuated response to LPS (J:66080)
(J:66080)
(J:66080)
(J:66080)
(J:66080)
(J:66080)
(J:66080)
• reduced platelet spreading on collagen, but not fibrinogen, monolayer (J:86448)
• reduced platelet spreading on collagen, but not fibrinogen, monolayer (J:86448)
• reduced aggregation in response to high concentrations of collagen-related peptide (CRP) and to collagen (J:86448)
• abolished aggregation in response to low concentrations of collagen-related peptide (CRP) and to collagen (J:86448)
• no alterations in aggregation in response to ADP (J:86448)
• reduced aggregation in response to high concentrations of collagen-related peptide (CRP) and to collagen (J:86448)
• abolished aggregation in response to low concentrations of collagen-related peptide (CRP) and to collagen (J:86448)
• no alterations in aggregation in response to ADP (J:86448)

immune system
• partial block at large pre-B cell stage (J:66080)
• partial block at large pre-B cell stage (J:66080)
(J:66080)
(J:66080)
• accumulation of CD43+ B cell precursors, indicating partial developmental block (J:66080)
• accumulation of CD43+ B cell precursors, indicating partial developmental block (J:66080)
(J:66080)
(J:66080)
• failure to respond to IgM (J:66080)
• attenuated response to LPS (J:66080)
• failure to respond to IgM (J:66080)
• attenuated response to LPS (J:66080)
• failure to respond to thymus-independent antigen (TNP-Ficoll) (J:66080)
• failure to respond to thymus-dependent antigen (TNP-KLH adsorbed on aluminum hydroxide) (J:66080)
• failure to respond to thymus-independent antigen (TNP-Ficoll) (J:66080)
• failure to respond to thymus-dependent antigen (TNP-KLH adsorbed on aluminum hydroxide) (J:66080)
(J:66080)
(J:66080)
(J:66080)
(J:66080)
(J:66080)
(J:66080)

homeostasis/metabolism
• reduced platelet spreading on collagen, but not fibrinogen, monolayer (J:86448)
• reduced platelet spreading on collagen, but not fibrinogen, monolayer (J:86448)
• reduced aggregation in response to high concentrations of collagen-related peptide (CRP) and to collagen (J:86448)
• abolished aggregation in response to low concentrations of collagen-related peptide (CRP) and to collagen (J:86448)
• no alterations in aggregation in response to ADP (J:86448)
• reduced aggregation in response to high concentrations of collagen-related peptide (CRP) and to collagen (J:86448)
• abolished aggregation in response to low concentrations of collagen-related peptide (CRP) and to collagen (J:86448)
• no alterations in aggregation in response to ADP (J:86448)

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




Genotype
MGI:3836561
cx4
Allelic
Composition
Blnktm1Achn/Blnk+
Btktm1Wk/Btktm1Wk
Tg(IGH-Btk)1Witt/0
Genetic
Background
involves: 129S4/SvJae * 129X1/SvJ * BALB/c * C3H * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Blnktm1Achn mutation (1 available); any Blnk mutation (51 available)
Btktm1Wk mutation (1 available); any Btk mutation (10 available)
Tg(IGH-Btk)1Witt mutation (0 available)
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 (J:82430)
• impairment in the early and late phases of Ca2+ mobilization following BCR stimulation (J:82430)
• fail to proliferate after BCR cross linking (J:82430)
• following cross linking the frequency of cycling cells is reduced and the percentage of cells with greater than 2N DNA is increased (J:82430)
• fail to proliferate after BCR cross linking (J:82430)
• following cross linking the frequency of cycling cells is reduced and the percentage of cells with greater than 2N DNA is increased (J:82430)

hematopoietic system
• impairment in the early and late phases of Ca2+ mobilization following BCR stimulation (J:82430)
• impairment in the early and late phases of Ca2+ mobilization following BCR stimulation (J:82430)
• fail to proliferate after BCR cross linking (J:82430)
• following cross linking the frequency of cycling cells is reduced and the percentage of cells with greater than 2N DNA is increased (J:82430)
• fail to proliferate after BCR cross linking (J:82430)
• following cross linking the frequency of cycling cells is reduced and the percentage of cells with greater than 2N DNA is increased (J:82430)




Genotype
MGI:3836562
cx5
Allelic
Composition
Btktm1Wk/Btktm1Wk
Tg(IGH-Btk)1Witt/0
Genetic
Background
involves: 129S4/SvJae * 129X1/SvJ * BALB/c * C3H * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Btktm1Wk mutation (1 available); any Btk mutation (10 available)
Tg(IGH-Btk)1Witt mutation (0 available)
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 (J:82430)
• following cross linking the frequency of cycling cells is reduced and the percentage of cells with greater than 2N DNA is increased (J:82430)

hematopoietic system
• following cross linking the frequency of cycling cells is reduced and the percentage of cells with greater than 2N DNA is increased (J:82430)
• following cross linking the frequency of cycling cells is reduced and the percentage of cells with greater than 2N DNA is increased (J:82430)




Genotype
MGI:2652543
cx6
Allelic
Composition
Blnktm1Pjln/Blnktm1Pjln
Btktm1Wk/Btktm1Wk
Genetic
Background
involves: 129S4/SvJae * BALB/c * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Blnktm1Pjln mutation (0 available); any Blnk mutation (51 available)
Btktm1Wk mutation (1 available); any Btk mutation (10 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hematopoietic system
• arrested B cell development at the pre-B stage (J:70406)
• arrested B cell development at the pre-B stage (J:70406)

immune system
• arrested B cell development at the pre-B stage (J:70406)
• arrested B cell development at the pre-B stage (J:70406)

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




Genotype
MGI:2655323
cx7
Allelic
Composition
Btktm1Wk/Btktm1Wk
Cd40tm1Geha/Cd40tm1Geha
Genetic
Background
involves: 129S4/SvJae * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Btktm1Wk mutation (1 available); any Btk mutation (10 available)
Cd40tm1Geha mutation (0 available); any Cd40 mutation (14 available)
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 (J:82298)
• B cell deficiency is more severe in the lymph node than in spleen (J:82298)
• 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 (J:82298)
• B cell deficiency is more severe in the lymph node than in spleen (J:82298)
• mature recirculating B cells (B220highIgM+, HSAlowIgM+, and B220+IgD+) are reduced more than in single Btk homozygotes (J:82298)
• mature recirculating B cells (B220highIgM+, HSAlowIgM+, and B220+IgD+) are reduced more than in single Btk homozygotes (J:82298)
• absence of germinal center formation in response to TI-I antigen stimulation (J:82298)
• absence of germinal center formation in response to TI-I antigen stimulation (J:82298)
• in vitro, B cells show a reduced level of proliferation in response to LPS compared to wild-type (J:82298)
• in vitro, B cells show a reduced level of proliferation in response to LPS compared to wild-type (J:82298)
• 40-fold reduction compared to single CD40 homozygote (J:82298)
• 40-fold reduction compared to single CD40 homozygote (J:82298)
• similar decrease to that seen in single CD40 homozygotes (J:82298)
• similar decrease to that seen in single CD40 homozygotes (J:82298)
• 10-fold reduction compared to single CD40 homozygote (J:82298)
• 10-fold reduction compared to single CD40 homozygote (J:82298)
• similar decrease to that seen in single Btk homozygotes (J:82298)
• similar decrease to that seen in single Btk homozygotes (J:82298)
• 7-fold reduction compared to single Btk homozygote (J:82298)
• 7-fold reduction compared to single Btk homozygote (J:82298)

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 (J:82298)
• B cell deficiency is more severe in the lymph node than in spleen (J:82298)
• 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 (J:82298)
• B cell deficiency is more severe in the lymph node than in spleen (J:82298)
• mature recirculating B cells (B220highIgM+, HSAlowIgM+, and B220+IgD+) are reduced more than in single Btk homozygotes (J:82298)
• mature recirculating B cells (B220highIgM+, HSAlowIgM+, and B220+IgD+) are reduced more than in single Btk homozygotes (J:82298)
• absence of germinal center formation in response to TI-I antigen stimulation (J:82298)
• absence of germinal center formation in response to TI-I antigen stimulation (J:82298)
• in vitro, B cells show a reduced level of proliferation in response to LPS compared to wild-type (J:82298)
• in vitro, B cells show a reduced level of proliferation in response to LPS compared to wild-type (J:82298)
• absence of germinal center formation in response to TI-I antigen stimulation (J:82298)
• absence of germinal center formation in response to TI-I antigen stimulation (J:82298)
• defective IgM and IgG response to TI antigen and TD antigen stimulation (J:82298)
• defective IgM and IgG response to TI antigen and TD antigen stimulation (J:82298)
• 40-fold reduction compared to single CD40 homozygote (J:82298)
• 40-fold reduction compared to single CD40 homozygote (J:82298)
• similar decrease to that seen in single CD40 homozygotes (J:82298)
• similar decrease to that seen in single CD40 homozygotes (J:82298)
• 10-fold reduction compared to single CD40 homozygote (J:82298)
• 10-fold reduction compared to single CD40 homozygote (J:82298)
• similar decrease to that seen in single Btk homozygotes (J:82298)
• similar decrease to that seen in single Btk homozygotes (J:82298)
• 7-fold reduction compared to single Btk homozygote (J:82298)
• 7-fold reduction compared to single Btk homozygote (J:82298)





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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory