Phenotypes Associated with This Genotype

Genotype
MGI:3687751

• Allelic Composition: Btk^xid/Btk^xid
• Genetic Background: involves: CBA/HN * DBA/2N

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

hematopoietic system

decreased B cell number ( J:81429 )

♀ • spleens from females have ~40% immunoglobulin-bearing cells compared to ~50% in controls

♀ • Background Sensitivity: numbers are greater in female mutants on CBA * C57BL/6 background (40%) than females on CBA/HN background (22%)

spleen hypoplasia ( J:81429 )

♀ • number of nucleated spleen cells (~90 x 10⁶/spleen) is significantly lower than in controls (~120 x 10⁶/spleen)

♀ • Background Sensitivity: females on the CBA * DBA/2J (~90 x 10⁶/spleen) have significantly more nucleated spleen cells CBA/HN females (~60 x 10⁶/spleen)

abnormal B cell physiology ( J:81429 )

♀ • spleen cells from unsensitized females cause 3-fold higher chromium release from H-2b antibody treated EL-4 tumor cells than splenocytes from males

abnormal B cell proliferation ( J:81429 )

♀ • B cells show response to LPS and poly I:C similar to wild-type cells

♀ • Background Sensitivity: proliferative response in B cells from females is much higher than in cells from female mutants on CBA/HN background

immune system

decreased B cell number ( J:81429 )

♀ • spleens from females have ~40% immunoglobulin-bearing cells compared to ~50% in controls

♀ • Background Sensitivity: numbers are greater in female mutants on CBA * C57BL/6 background (40%) than females on CBA/HN background (22%)

spleen hypoplasia ( J:81429 )

♀ • number of nucleated spleen cells (~90 x 10⁶/spleen) is significantly lower than in controls (~120 x 10⁶/spleen)

♀ • Background Sensitivity: females on the CBA * DBA/2J (~90 x 10⁶/spleen) have significantly more nucleated spleen cells CBA/HN females (~60 x 10⁶/spleen)

abnormal B cell physiology ( J:81429 )

♀ • spleen cells from unsensitized females cause 3-fold higher chromium release from H-2b antibody treated EL-4 tumor cells than splenocytes from males

abnormal B cell proliferation ( J:81429 )

♀ • B cells show response to LPS and poly I:C similar to wild-type cells

♀ • Background Sensitivity: proliferative response in B cells from females is much higher than in cells from female mutants on CBA/HN background

cellular

abnormal B cell proliferation ( J:81429 )

♀ • B cells show response to LPS and poly I:C similar to wild-type cells

♀ • Background Sensitivity: proliferative response in B cells from females is much higher than in cells from female mutants on CBA/HN background

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