Phenotypes Associated with This Genotype

Genotype
MGI:3028887

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

• ♀: 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