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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
• increased numbers of pro-B cells
• decreased numbers of mature B cells (J:28968)
• numbers of mature recirculating B cells (B220highIgM+, HSAlowIgM+, and B220+IgD+) are reduced (J:82298)
• germinal centers are infrequent in TNP-LPS immunized mutants
• germinal centers are smaller in TNP-LPS immunized mutants
• 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
• decreased serum IgG3 concentration (J:28968)
(J:82298)
• decreased serum IgM concentration (J:28968)
(J:82298)

immune system
• partial arrest of B cell development
• increased numbers of pro-B cells
• decreased numbers of mature B cells (J:28968)
• numbers of mature recirculating B cells (B220highIgM+, HSAlowIgM+, and B220+IgD+) are reduced (J:82298)
• germinal centers are infrequent in TNP-LPS immunized mutants
• germinal centers are smaller in TNP-LPS immunized mutants
• 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
• 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 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




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 (16 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hematopoietic system
• partial block at large pre-B cell stage
• accumulation of CD43+ B cell precursors, indicating partial developmental block
• 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
• partial block at large pre-B cell stage
• accumulation of CD43+ B cell precursors, indicating partial developmental block
• 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 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 (58 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
• 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




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

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




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 (58 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

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

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 (21 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
• 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
• absence of germinal center formation in response to TI-I antigen stimulation
• in vitro, B cells show a reduced level of proliferation in response to LPS compared to wild-type
• 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
• absence of germinal center formation in response to TI-I antigen stimulation
• 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
• 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





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last database update
05/24/2016
MGI 6.04
The Jackson Laboratory