Phenotypes Associated with This Genotype

Genotype
MGI:6155603

• Allelic Composition: Magt1^{Gt(IST13422E1)Tigm}/Y
• Genetic Background: involves: C57BL/6N

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

immune system

increased B cell proliferation ( J:260923 )

♂ • in IgM/IL-4- or PMA/ionomycin-stimulated cells

♂ • however, calcium-independent activation with LPS is normal

decreased T cell number ( J:260923 )

♂ • small decrease in frequency

♂ • decreased CD4+/CD8+ ratio in the spleen and lymph nodes but not the blood

♂ • however, T cell numbers are normal in the peripheral blood, spleen and lymph nodes

abnormal B cell morphology ( J:260923 )

♂ • increased fraction of CD19+ B cells in the blood and lymphoid organs

♂ • reduced intracellular magnesium levels in resting and activated B cells

♂ • increased calcium influx in B cells

decreased plasma cell number ( J:260923 )

♂ • decreased frequency

♂ • however, follicular B cell levels are normal

increased B cell number ( J:260923 )

♂ • in peripheral blood, splenic tissue, and lymph nodes, but not in bone marrow

increased marginal zone B cell number ( J:260923 )

♂ • increased frequency in the spleen

hematopoietic system

increased B cell proliferation ( J:260923 )

♂ • in IgM/IL-4- or PMA/ionomycin-stimulated cells

♂ • however, calcium-independent activation with LPS is normal

decreased T cell number ( J:260923 )

♂ • small decrease in frequency

♂ • decreased CD4+/CD8+ ratio in the spleen and lymph nodes but not the blood

♂ • however, T cell numbers are normal in the peripheral blood, spleen and lymph nodes

abnormal B cell morphology ( J:260923 )

♂ • increased fraction of CD19+ B cells in the blood and lymphoid organs

♂ • reduced intracellular magnesium levels in resting and activated B cells

♂ • increased calcium influx in B cells

decreased plasma cell number ( J:260923 )

♂ • decreased frequency

♂ • however, follicular B cell levels are normal

increased B cell number ( J:260923 )

♂ • in peripheral blood, splenic tissue, and lymph nodes, but not in bone marrow

increased marginal zone B cell number ( J:260923 )

♂ • increased frequency in the spleen

cellular

increased B cell proliferation ( J:260923 )

♂ • in IgM/IL-4- or PMA/ionomycin-stimulated cells

♂ • however, calcium-independent activation with LPS is normal

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
primary immunodeficiency disease		DOID:612	OMIM:242850 OMIM:PS300755	J:260923