Phenotypes Associated with This Genotype

Genotype
MGI:2449488

• Allelic Composition: Btk^tm1Gsv/Y
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

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

homeostasis/metabolism

abnormal B cell calcium ion homeostasis ( J:94768 )

♂ • significantly reduced calcium signaling in splenic B cells

immune system

abnormal B cell differentiation ( J:35769 )

♂ • development through to large pre-B cell stage is normal

♂ • transition from pre-B to immature B cell is impaired

decreased immature B cell number ( J:35769 )

♂ • reduced IgM⁺IgD^- to about 70% of normal numbers at 5 weeks of age

decreased B cell number ( J:35769 )

♂ • decreased number of B220+ cells peripherally

♂ • thymocyte and T cell numbers are unaffected

absent mature B cells ( J:35769 )

♂ • mature IgM^lowIgD^high are nearly absent

absent B-1a cells ( J:35769 )

♂ • deficiency of CD5+ B cells in the peritoneum

abnormal immune system physiology ( J:35769 )

♂

abnormal B cell calcium ion homeostasis ( J:94768 )

♂ • significantly reduced calcium signaling in splenic B cells

abnormal humoral immune response ( J:120989 )

♂ • no response to T cell independent type II antigens

decreased immunoglobulin level ( J:120989 )

♂ • decreased lambda light chain usage

decreased IgG3 level ( J:35769 )

♂ • IgG3 reduced 20% at 5 weeks of age

decreased IgM level ( J:35769 )

♂ • reduced 50% at 5 weeks of age

hematopoietic system

abnormal B cell differentiation ( J:35769 )

♂ • development through to large pre-B cell stage is normal

♂ • transition from pre-B to immature B cell is impaired

decreased immature B cell number ( J:35769 )

♂ • reduced IgM⁺IgD^- to about 70% of normal numbers at 5 weeks of age

decreased B cell number ( J:35769 )

♂ • decreased number of B220+ cells peripherally

♂ • thymocyte and T cell numbers are unaffected

absent mature B cells ( J:35769 )

♂ • mature IgM^lowIgD^high are nearly absent

absent B-1a cells ( J:35769 )

♂ • deficiency of CD5+ B cells in the peritoneum

abnormal B cell calcium ion homeostasis ( J:94768 )

♂ • significantly reduced calcium signaling in splenic B cells

decreased immunoglobulin level ( J:120989 )

♂ • decreased lambda light chain usage

decreased IgG3 level ( J:35769 )

♂ • IgG3 reduced 20% at 5 weeks of age

decreased IgM level ( J:35769 )

♂ • reduced 50% at 5 weeks of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
X-linked agammaglobulinemia		DOID:14179	OMIM:300755	J:35769