Phenotypes Associated with This Genotype

Genotype
MGI:3687752

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

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

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

♂ • proliferative response occurs slightly later and is much lower in males than in females

decreased B cell number ( J:81429 )

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

spleen hypoplasia ( J:81429 )

♂ • number of nucleated spleen cells (~50 x 10⁶/spleen) is significantly lower than in controls (~120 x 10⁶/spleen)

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

♂ • proliferative response occurs slightly later and is much lower in males than in females

decreased B cell number ( J:81429 )

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

spleen hypoplasia ( J:81429 )

♂ • number of nucleated spleen cells (~50 x 10⁶/spleen) is significantly lower than in controls (~120 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

♂ • proliferative response occurs slightly later and is much lower in males than in females

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