Phenotypes Associated with This Genotype

Genotype
MGI:7612226

• Allelic Composition: Copg1^em1Geha/Copg1^em1Geha
• Genetic Background: involves: C57BL/6

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

cellular

abnormal endoplasmic reticulum morphology ( J:345528 )

• smaller, with shorter and more sparse membrane strands, in resting and LPS+IL4 activated B cells

increased T cell apoptosis ( J:345528 )

• reduced viability and increased apoptosis of CD3+ splenic T cells after stimulation with OVA or anti-CD3 + anti-CD28

increased endoplasmic reticulum stress ( J:345528 )

• smaller ER, with shorter and more sparse membrane strands, in resting and LPS+IL4 activated B cells

hematopoietic system

increased T cell apoptosis ( J:345528 )

• reduced viability and increased apoptosis of CD3+ splenic T cells after stimulation with OVA or anti-CD3 + anti-CD28

abnormal B cell physiology ( J:345528 )

• mislocalization of HSPA5 chaperone protein from ER to Golgi in resting B cells

• mislocalization of CALR and ERP29 chaperone proteins from ER to Golgi in LPS+IL4 activated B cells

• reduced IgG secretion after LPS+IL4 stimulation

abnormal IgG level ( J:345528 )

• reduced B cell IgG secretion after LPS+IL4 stimulation

immune system

immune system phenotype ( J:345528 )

N • normal cellularity and B cell development in bone marrow

N • normal cellularity in thymus, spleen and lymph nodes

N • normal thymocyte development

N • normal splenic B cell subsets and marginal zone B cells

N • normal CD4+ and CD8+ T cell distribution in spleen and inguinal and mesenteric lymph nodes

N • normal spleen histology

N • no autoantibodies in serum

N • no T cell lymphopenia

N • normal B cell proliferation and viability after LPS+IL4 stimulation

N • normal plasmablast differentiation after LPS+IL4 stimulation of B cells

N • normal class switching recombination after LPS+IL4 stimulation of B cells

N • normal serum IgA and IgM levels

N • normal germinal center (GC) size after TNP-KLH immunization

N • normal T follicular helper cell germinal center (GC) B cell percentages after TNP-KLH immunization

N • normal proliferation and activation of CD3+ splenic T cells after stimulation with anti-CD3 + anti-CD28

N • normal T cell toxicity against allogeneic targets and normal NK cell cytotoxicity

increased T cell apoptosis ( J:345528 )

• reduced viability and increased apoptosis of CD3+ splenic T cells after stimulation with OVA or anti-CD3 + anti-CD28

abnormal B cell physiology ( J:345528 )

• mislocalization of HSPA5 chaperone protein from ER to Golgi in resting B cells

• mislocalization of CALR and ERP29 chaperone proteins from ER to Golgi in LPS+IL4 activated B cells

• reduced IgG secretion after LPS+IL4 stimulation

abnormal IgG level ( J:345528 )

• reduced B cell IgG secretion after LPS+IL4 stimulation

decreased circulating interferon-gamma level ( J:345528 )

• reduced splenic T cell IFNG secretion after stimulation with OVA or anti-CD3 + anti-CD28 owing to reduced number of cells

• normal per cell splenic T cell IFNG secretion after stimulation with anti-CD3 + anti-CD28

increased susceptibility to bacterial infection induced morbidity/mortality ( J:345528 )

• mean body weight 70% of weight before cohousing with pet store mice at cohousing day 22

• hunched posture and ruffled fur after cohousing 22 days with pet store mice

• increased serum IFNA and IFNG levels after cohousing 11 or 22 days with pet store mice

• increased serum IL6 levels after cohousing 22 days with pet store mice

• decreased numbers of CD3+, CD4+, CD8+ and B220+ cells in spleen after cohousing 22 days with pet store mice

• increased percentage of CD69+ and CD44+ cells after cohousing 22 days with pet store mice

• reduced T cell proliferation after anti-CD3 + anti-CD28 exposure after cohousing 22 days with pet store mice

• increased B220-lo CD138+ plasmablast numbers in spleen after cohousing 22 days with pet store mice

• after cohousing 22 days with pet store mice

• normal increase in serum IgG levels after cohousing 22 days with pet store mice

• normal B cell proliferation following LPS+IL4 stimulation after cohousing 22 days with pet store mice

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:345528 )

N • normal insulin, glucose, alanine aminotransferase (ALT) and alkaline phosphatase (ALP) levels in serum

decreased circulating interferon-gamma level ( J:345528 )

• reduced splenic T cell IFNG secretion after stimulation with OVA or anti-CD3 + anti-CD28 owing to reduced number of cells

• normal per cell splenic T cell IFNG secretion after stimulation with anti-CD3 + anti-CD28

mortality/aging

increased susceptibility to bacterial infection induced morbidity/mortality ( J:345528 )

• mean body weight 70% of weight before cohousing with pet store mice at cohousing day 22

• hunched posture and ruffled fur after cohousing 22 days with pet store mice

• increased serum IFNA and IFNG levels after cohousing 11 or 22 days with pet store mice

• increased serum IL6 levels after cohousing 22 days with pet store mice

• decreased numbers of CD3+, CD4+, CD8+ and B220+ cells in spleen after cohousing 22 days with pet store mice

• increased percentage of CD69+ and CD44+ cells after cohousing 22 days with pet store mice

• reduced T cell proliferation after anti-CD3 + anti-CD28 exposure after cohousing 22 days with pet store mice

• increased B220-lo CD138+ plasmablast numbers in spleen after cohousing 22 days with pet store mice

• after cohousing 22 days with pet store mice

• normal increase in serum IgG levels after cohousing 22 days with pet store mice

• normal B cell proliferation following LPS+IL4 stimulation after cohousing 22 days with pet store mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
combined immunodeficiency		DOID:0111962		J:345528
polyclonal hypergammaglobulinemia		DOID:2344		J:345528