Phenotypes Associated with This Genotype

Genotype
MGI:2651673

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

• ♀: 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