Phenotypes Associated with This Genotype

Genotype
MGI:3687754

• Allelic Composition: Btk^xid/Btk^xid
• Genetic Background: CBA/HN-Btk^xid

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

immune system

decreased B cell proliferation ( J:81429 )

♀ • cultured B cells show little response to B-cell mitogens LPS and poly I:C in comparison to wild-type cells

♀ • Background Sensitivity: proliferative response in B cells from females is drastically lower than in cells from female mutants on CBA/HN * DBA/2N background

abnormal lymphopoiesis ( J:7981 )

♀ • incidence of small lymphocytes is slightly lower, but absolute population is not, compared to controls

decreased B cell number ( J:81429 )

♀ • spleens have only ~22% immunoglobulin-bearing cells compared to ~50% in controls

♀ • Background Sensitivity: numbers (22%) are less than female mutants on CBA/HN * DBA/2N background (40%)

♀ • incidence of B lymphocytes is slightly lower, but absolute population is not, compared to controls

abnormal pre-B cell morphology ( J:7981 )

♀ • incidence of pre-B cells is slightly reduced, but absolute population is comparable to controls

decreased splenocyte number ( J:81429 )

♀ • number of nucleated spleen cells (~60 x 10⁶/spleen) is significantly lower than in controls (~120 x 10⁶/spleen)

♀ • Background Sensitivity: females have significantly less than females on the CBA/HN * DBA/2N background which have (~90 x 10⁶/spleen)

autoimmune response ( J:125114 )

♀ • mice do not develop autoantibodies (anti-dsDNA or any IgG antinuclear autoantibodies)

hematopoietic system

decreased B cell proliferation ( J:81429 )

♀ • cultured B cells show little response to B-cell mitogens LPS and poly I:C in comparison to wild-type cells

♀ • Background Sensitivity: proliferative response in B cells from females is drastically lower than in cells from female mutants on CBA/HN * DBA/2N background

abnormal lymphopoiesis ( J:7981 )

♀ • incidence of small lymphocytes is slightly lower, but absolute population is not, compared to controls

abnormal bone marrow cell number ( J:7981 )

♀ • number of nucleated cells is higher in mutants than in controls

decreased B cell number ( J:81429 )

♀ • spleens have only ~22% immunoglobulin-bearing cells compared to ~50% in controls

♀ • Background Sensitivity: numbers (22%) are less than female mutants on CBA/HN * DBA/2N background (40%)

♀ • incidence of B lymphocytes is slightly lower, but absolute population is not, compared to controls

abnormal pre-B cell morphology ( J:7981 )

♀ • incidence of pre-B cells is slightly reduced, but absolute population is comparable to controls

decreased splenocyte number ( J:81429 )

♀ • number of nucleated spleen cells (~60 x 10⁶/spleen) is significantly lower than in controls (~120 x 10⁶/spleen)

♀ • Background Sensitivity: females have significantly less than females on the CBA/HN * DBA/2N background which have (~90 x 10⁶/spleen)

cellular

decreased B cell proliferation ( J:81429 )

♀ • cultured B cells show little response to B-cell mitogens LPS and poly I:C in comparison to wild-type cells

♀ • Background Sensitivity: proliferative response in B cells from females is drastically lower than in cells from female mutants on CBA/HN * DBA/2N background

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
X-linked agammaglobulinemia		DOID:14179	OMIM:300755	J:81429