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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Copg1em1Geha
endonuclease-mediated mutation 1, Raif Geha
MGI:7611910
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Copg1em1Geha/Copg1em1Geha involves: C57BL/6 MGI:7612226


Genotype
MGI:7612226
hm1
Allelic
Composition
Copg1em1Geha/Copg1em1Geha
Genetic
Background
involves: C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Copg1em1Geha mutation (0 available); any Copg1 mutation (50 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular
• smaller, with shorter and more sparse membrane strands, in resting and LPS+IL4 activated B cells
• reduced viability and increased apoptosis of CD3+ splenic T cells after stimulation with OVA or anti-CD3 + anti-CD28
• smaller ER, with shorter and more sparse membrane strands, in resting and LPS+IL4 activated B cells

hematopoietic system
• reduced viability and increased apoptosis of CD3+ splenic T cells after stimulation with OVA or anti-CD3 + anti-CD28
• 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
• reduced B cell IgG secretion after LPS+IL4 stimulation

immune system
N
• normal cellularity and B cell development in bone marrow
• normal cellularity in thymus, spleen and lymph nodes
• normal thymocyte development
• normal splenic B cell subsets and marginal zone B cells
• normal CD4+ and CD8+ T cell distribution in spleen and inguinal and mesenteric lymph nodes
• normal spleen histology
• no autoantibodies in serum
• no T cell lymphopenia
• normal B cell proliferation and viability after LPS+IL4 stimulation
• normal plasmablast differentiation after LPS+IL4 stimulation of B cells
• normal class switching recombination after LPS+IL4 stimulation of B cells
• normal serum IgA and IgM levels
• normal germinal center (GC) size after TNP-KLH immunization
• normal T follicular helper cell germinal center (GC) B cell percentages after TNP-KLH immunization
• normal proliferation and activation of CD3+ splenic T cells after stimulation with anti-CD3 + anti-CD28
• normal T cell toxicity against allogeneic targets and normal NK cell cytotoxicity
• reduced viability and increased apoptosis of CD3+ splenic T cells after stimulation with OVA or anti-CD3 + anti-CD28
• 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
• reduced B cell IgG secretion after LPS+IL4 stimulation
• 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
• 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
N
• normal insulin, glucose, alanine aminotransferase (ALT) and alkaline phosphatase (ALP) levels in serum
• 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
• 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





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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
12/10/2024
MGI 6.24
The Jackson Laboratory