Phenotypes Associated with This Genotype

Genotype
MGI:3576734

• Allelic Composition: Sh2d1a^tm1Cpt/Sh2d1a^tm1Cpt
• Genetic Background: B6.129S4-Sh2d1a^tm1Cpt

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

immune system

decreased transitional stage B cell number ( J:97690 )

♀ • the number of transitional-2 B lymphocytes in the lymph nodes is decreased

increased B cell number ( J:97388 )

♀ • the number of CD21-Igm-B220+ and CD21-CD23-B220+ B cells is increased

decreased NK T cell number ( J:97690 )

♀ • the frequency of NKT cells in the lymph node, spleen, liver and thymus is reduced

absent NK T cells ( J:97690 )

♀ • CD1d-restricted NKT cells are absent

abnormal humoral immune response ( J:97388 )

♀ • IgG viral and T-dependent antigen-specific antibody responses are impaired; however, no defect in T-independent responses is seen

decreased IgG1 level ( J:97388 )

♀ • in specific pathogen-free conditions basal serum levels of IgG1 are decreased

increased IgG2a level ( J:97388 )

♀ • in specific pathogen-free conditions serum IgG2a levels are increased

decreased IgM level ( J:97388 )

♀ • after viral infection reduced primary antigen-specific IgM responses are seen

♀ • after immunization with TNP-KLH/alum reduced serum titers of all antigen specific IgM isotypes were seen

hematopoietic system

decreased transitional stage B cell number ( J:97690 )

♀ • the number of transitional-2 B lymphocytes in the lymph nodes is decreased

increased B cell number ( J:97388 )

♀ • the number of CD21-Igm-B220+ and CD21-CD23-B220+ B cells is increased

decreased NK T cell number ( J:97690 )

♀ • the frequency of NKT cells in the lymph node, spleen, liver and thymus is reduced

absent NK T cells ( J:97690 )

♀ • CD1d-restricted NKT cells are absent

decreased IgG1 level ( J:97388 )

♀ • in specific pathogen-free conditions basal serum levels of IgG1 are decreased

increased IgG2a level ( J:97388 )

♀ • in specific pathogen-free conditions serum IgG2a levels are increased

decreased IgM level ( J:97388 )

♀ • after viral infection reduced primary antigen-specific IgM responses are seen

♀ • after immunization with TNP-KLH/alum reduced serum titers of all antigen specific IgM isotypes were seen

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
X-linked lymphoproliferative syndrome 1		DOID:0060705	OMIM:308240	J:97388 , J:97690