All Phenotypes Btk<tm1Wk> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Btk^tm1Wk
targeted mutation 1, Wasif Kahn
MGI:1857138

Summary

7 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Btk^tm1Wk/Btk^tm1Wk	involves: 129S4/SvJae * C57BL/6	MGI:2651673
ht2	Btk^tm1Witt/Btk^tm1Wk	involves: 129S4/SvJae * 129X1/SvJ	MGI:3617230
cx3	Btk^tm1Wk/Btk^tm1Wk Tec^tm1Welm/Tec^tm1Welm	involves: 129P2/OlaHsd * C57BL/6	MGI:3028887
cx4	Blnk^tm1Achn/Blnk⁺ Btk^tm1Wk/Btk^tm1Wk Tg(IGH-Btk)1Witt/0	involves: 129S4/SvJae * 129X1/SvJ * BALB/c * C3H * C57BL/6	MGI:3836561
cx5	Btk^tm1Wk/Btk^tm1Wk Tg(IGH-Btk)1Witt/0	involves: 129S4/SvJae * 129X1/SvJ * BALB/c * C3H * C57BL/6	MGI:3836562
cx6	Blnk^tm1Pjln/Blnk^tm1Pjln Btk^tm1Wk/Btk^tm1Wk	involves: 129S4/SvJae * BALB/c * C57BL/6	MGI:2652543
cx7	Btk^tm1Wk/Btk^tm1Wk Cd40^tm1Geha/Cd40^tm1Geha	involves: 129S4/SvJae * C57BL/6	MGI:2655323

Allelic Composition	Btk^tm1Wk/Btk^tm1Wk
Genetic Background	involves: 129S4/SvJae * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Btk^tm1Wk mutation (1 available); any Btk mutation (21 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

hematopoietic system

abnormal B cell differentiation ( J:28968 )

• partial arrest of B cell development

increased pro-B cell number ( J:28968 )

• increased numbers of pro-B cells

decreased mature B cell number ( J:28968 , J:82298 )

• decreased numbers of mature B cells (J:28968)

• numbers of mature recirculating B cells (B220^highIgM+, HSA^lowIgM+, and B220+IgD+) are reduced (J:82298)

decreased spleen germinal center number ( J:82298 )

• germinal centers are infrequent in TNP-LPS immunized mutants

decreased spleen germinal center size ( J:82298 )

• germinal centers are smaller in TNP-LPS immunized mutants

abnormal B cell activation ( J:28968 )

• defective B cell activation after immunization with T-independent type II antigens

decreased B cell proliferation ( J:82298 )

• in vitro, B cells show a reduced level of proliferation in response to LPS compared to wild-type

decreased IgG3 level ( J:28968 , J:82298 )

• decreased serum IgG3 concentration (J:28968)

(J:82298)

decreased IgM level ( J:28968 , J:82298 )

• decreased serum IgM concentration (J:28968)

(J:82298)

immune system

abnormal B cell differentiation ( J:28968 )

• partial arrest of B cell development

increased pro-B cell number ( J:28968 )

• increased numbers of pro-B cells

decreased mature B cell number ( J:28968 , J:82298 )

• decreased numbers of mature B cells (J:28968)

• numbers of mature recirculating B cells (B220^highIgM+, HSA^lowIgM+, and B220+IgD+) are reduced (J:82298)

decreased spleen germinal center number ( J:82298 )

• germinal centers are infrequent in TNP-LPS immunized mutants

decreased spleen germinal center size ( J:82298 )

• germinal centers are smaller in TNP-LPS immunized mutants

abnormal B cell activation ( J:28968 )

• defective B cell activation after immunization with T-independent type II antigens

decreased B cell proliferation ( J:82298 )

• in vitro, B cells show a reduced level of proliferation in response to LPS compared to wild-type

decreased IgG3 level ( J:28968 , J:82298 )

• decreased serum IgG3 concentration (J:28968)

(J:82298)

decreased IgM level ( J:28968 , J:82298 )

• decreased serum IgM concentration (J:28968)

(J:82298)

abnormal lymph node germinal center morphology ( J:82298 )

• smaller and fewer germinal centers are observed in response to TI-I antigen, TNP-LPS

cellular

decreased B cell proliferation ( J:82298 )

• in vitro, B cells show a reduced level of proliferation in response to LPS compared to wild-type

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
X-linked agammaglobulinemia		DOID:14179	OMIM:300755	J:28968

Allelic Composition	Btk^tm1Witt/Btk^tm1Wk
Genetic Background	involves: 129S4/SvJae * 129X1/SvJ

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Btk^tm1Witt mutation (0 available); any Btk mutation (21 available)
Btk^tm1Wk mutation (1 available); any Btk mutation (21 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

immune system

immune system phenotype ( J:104167 )

N	• B cell development and activation are normal and no other obvious abnormalities are seen

Allelic Composition	Btk^tm1Wk/Btk^tm1Wk Tec^tm1Welm/Tec^tm1Welm
Genetic Background	involves: 129P2/OlaHsd * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Btk^tm1Wk mutation (1 available); any Btk mutation (21 available)
Tec^tm1Welm mutation (0 available); any Tec mutation (43 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

hematopoietic system

decreased B cell proliferation ( J:66080 )

• failure to respond to IgM

• attenuated response to LPS

abnormal B cell differentiation ( J:66080 )

• partial block at large pre-B cell stage

decreased B cell number ( J:66080 )

increased pre-B cell number ( J:66080 )

• accumulation of CD43+ B cell precursors, indicating partial developmental block

abnormal spleen morphology ( J:66080 )

abnormal spleen white pulp morphology ( J:66080 )

abnormal spleen marginal zone morphology ( J:66080 )

decreased immunoglobulin level ( J:66080 )

decreased IgG2a level ( J:66080 )

decreased IgG3 level ( J:66080 )

decreased IgM level ( J:66080 )

abnormal platelet physiology ( J:86448 )

• reduced platelet spreading on collagen, but not fibrinogen, monolayer

decreased platelet aggregation ( J:86448 )

• 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

decreased B cell proliferation ( J:66080 )

• failure to respond to IgM

• attenuated response to LPS

abnormal B cell differentiation ( J:66080 )

• partial block at large pre-B cell stage

decreased B cell number ( J:66080 )

increased pre-B cell number ( J:66080 )

• accumulation of CD43+ B cell precursors, indicating partial developmental block

abnormal spleen morphology ( J:66080 )

abnormal spleen white pulp morphology ( J:66080 )

abnormal spleen marginal zone morphology ( J:66080 )

abnormal humoral immune response ( J:66080 )

• failure to respond to thymus-independent antigen (TNP-Ficoll)

• failure to respond to thymus-dependent antigen (TNP-KLH adsorbed on aluminum hydroxide)

decreased immunoglobulin level ( J:66080 )

decreased IgG2a level ( J:66080 )

decreased IgG3 level ( J:66080 )

decreased IgM level ( J:66080 )

homeostasis/metabolism

abnormal platelet physiology ( J:86448 )

• reduced platelet spreading on collagen, but not fibrinogen, monolayer

decreased platelet aggregation ( J:86448 )

• 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

cellular

decreased B cell proliferation ( J:66080 )

• failure to respond to IgM

• attenuated response to LPS

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
X-linked agammaglobulinemia		DOID:14179	OMIM:300755	J:66080

Allelic Composition	Blnk^tm1Achn/Blnk⁺ Btk^tm1Wk/Btk^tm1Wk 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:
Blnk^tm1Achn mutation (1 available); any Blnk mutation (78 available)
Btk^tm1Wk mutation (1 available); any Btk mutation (21 available)
Tg(IGH-Btk)1Witt mutation (0 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

immune system

abnormal B cell physiology ( J:82430 )

• impairment in the early and late phases of Ca²⁺ mobilization following BCR stimulation

decreased B cell proliferation ( J:82430 )

• 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

abnormal B cell physiology ( J:82430 )

• impairment in the early and late phases of Ca²⁺ mobilization following BCR stimulation

decreased B cell proliferation ( J:82430 )

• 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

cellular

decreased B cell proliferation ( J:82430 )

• 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

Allelic Composition	Btk^tm1Wk/Btk^tm1Wk 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:
Btk^tm1Wk mutation (1 available); any Btk mutation (21 available)
Tg(IGH-Btk)1Witt mutation (0 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

immune system

decreased B cell proliferation ( J:82430 )

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

hematopoietic system

decreased B cell proliferation ( J:82430 )

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

cellular

decreased B cell proliferation ( J:82430 )

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

Allelic Composition	Blnk^tm1Pjln/Blnk^tm1Pjln Btk^tm1Wk/Btk^tm1Wk
Genetic Background	involves: 129S4/SvJae * BALB/c * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Blnk^tm1Pjln mutation (0 available); any Blnk mutation (78 available)
Btk^tm1Wk mutation (1 available); any Btk mutation (21 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

hematopoietic system

arrested B cell differentiation ( J:70406 )

• arrested B cell development at the pre-B stage

immune system

arrested B cell differentiation ( J:70406 )

• arrested B cell development at the pre-B stage

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
X-linked agammaglobulinemia		DOID:14179	OMIM:300755	J:70406

Allelic Composition	Btk^tm1Wk/Btk^tm1Wk Cd40^tm1Geha/Cd40^tm1Geha
Genetic Background	involves: 129S4/SvJae * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Btk^tm1Wk mutation (1 available); any Btk mutation (21 available)
Cd40^tm1Geha mutation (0 available); any Cd40 mutation (53 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

hematopoietic system

decreased B cell proliferation ( J:82298 )

• in vitro, B cells show a reduced level of proliferation in response to LPS compared to wild-type

decreased B cell number ( 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

• B cell deficiency is more severe in the lymph node than in spleen

decreased mature B cell number ( J:82298 )

• mature recirculating B cells (B220^highIgM+, HSA^lowIgM+, and B220+IgD+) are reduced more than in single Btk homozygotes

absent spleen germinal center ( J:82298 )

• absence of germinal center formation in response to TI-I antigen stimulation

decreased IgA level ( J:82298 )

• 40-fold reduction compared to single CD40 homozygote

decreased IgG2a level ( J:82298 )

• similar decrease to that seen in single CD40 homozygotes

decreased IgG2b level ( J:82298 )

• 10-fold reduction compared to single CD40 homozygote

decreased IgG3 level ( J:82298 )

• similar decrease to that seen in single Btk homozygotes

decreased IgM level ( J:82298 )

• 7-fold reduction compared to single Btk homozygote

immune system

decreased B cell proliferation ( J:82298 )

• in vitro, B cells show a reduced level of proliferation in response to LPS compared to wild-type

decreased B cell number ( J:82298 )

• B cell deficiency is more severe in the lymph node than in spleen

decreased mature B cell number ( J:82298 )

• mature recirculating B cells (B220^highIgM+, HSA^lowIgM+, and B220+IgD+) are reduced more than in single Btk homozygotes

absent spleen germinal center ( J:82298 )

• absence of germinal center formation in response to TI-I antigen stimulation

absent lymph node germinal center ( J:82298 )

• absence of germinal center formation in response to TI-I antigen stimulation

abnormal humoral immune response ( J:82298 )

• defective IgM and IgG response to TI antigen and TD antigen stimulation

decreased IgA level ( J:82298 )

• 40-fold reduction compared to single CD40 homozygote

decreased IgG2a level ( J:82298 )

• similar decrease to that seen in single CD40 homozygotes

decreased IgG2b level ( J:82298 )

• 10-fold reduction compared to single CD40 homozygote

decreased IgG3 level ( J:82298 )

• similar decrease to that seen in single Btk homozygotes

decreased IgM level ( J:82298 )

• 7-fold reduction compared to single Btk homozygote

cellular

decreased B cell proliferation ( J:82298 )

• in vitro, B cells show a reduced level of proliferation in response to LPS compared to wild-type

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