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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Rragcem1Efe
endonuclease-mediated mutation 1, Alejo Efeyan
MGI:6874615
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Rragcem1Efe/Rragcem1Efe Not Specified MGI:7482164
ht2
Rragcem1Efe/Rragc+ Not Specified MGI:7482165
cx3
Rragcem1Efe/Rragc+
Tg(Vav-BCL2)69Jad/0
Not Specified MGI:7482168


Genotype
MGI:7482164
hm1
Allelic
Composition
Rragcem1Efe/Rragcem1Efe
Genetic
Background
Not Specified
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rragcem1Efe mutation (0 available); any Rragc mutation (20 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• only 6.2% of homozygotes are recovered at E13.5, indicating partial embryonic lethality
• no viable homozygotes are produced from breeding heterozygotes




Genotype
MGI:7482165
ht2
Allelic
Composition
Rragcem1Efe/Rragc+
Genetic
Background
Not Specified
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rragcem1Efe mutation (0 available); any Rragc mutation (20 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
N
• heterozygotes are obtained at normal Mendelian ratios and exhibit normal longevity and age-dependent health decline with no major alterations in age-related pathologies

immune system
• after intraperitoneal injection of sheep red blood cells (SRBCs), mice show a two-thirds reduction in the number of GC B cells in spleen; the % of IgG1+ cells in GC B cells is also decreased in spleen
• however, GC B cell proliferation is normal, as measured by EdU incorporation in spleen
• after intraperitoneal injection of SRBCs, plasma cell (PC) number is reduced; the % of IgG1+ cells in PCs is also decreased in spleen
• after intraperitoneal injection of SRBCs, mice show a two-thirds reduction in total GC area / spleen area
• however, the GC dark zone/light zone ratio is not significantly altered
• after immunization with SRBCs, naive B cells, germinal center (GC) B cells, and plasma cells (PCs) display a significant reduction in mTORC1 activity, as shown by intracellular staining of S235/236-phospho-S6
• ex vivo activation of isolated naive B cells with anti-CD40 plus interleukin-4 (IL4) results in decreased class switch recombination to IgG1
• B cells exhibit a cell-intrinsic inability to become activated upon immunization with SRBCs
• activation of isolated naive B cells with anti-CD40 plus IL4 results in decreased in vitro B cell proliferation, as measured by decay of carboxyfluorescein succinimidyl ester (CFSE)
• 10 days after immunization with SRBCs, serum titers of IgG1 antibodies are decreased
• 10 days after immunization with SRBCs, serum titers of IgM antibodies are decreased
• heterozygotes show a B-cell-intrinsic impaired humoral response in vitro and in vivo

hematopoietic system
N
• at 2-3-months of age, lymphoid and myeloid populations are present at normal frequencies in blood and spleen; normal numbers of stem cells and lymphoid and myeloid progenitors are found in bone marrow; subpopulations of splenic B cells (marginal zone, transitional, and follicular B cells) remain unaffected
• after intraperitoneal injection of sheep red blood cells (SRBCs), mice show a two-thirds reduction in the number of GC B cells in spleen; the % of IgG1+ cells in GC B cells is also decreased in spleen
• however, GC B cell proliferation is normal, as measured by EdU incorporation in spleen
• after intraperitoneal injection of SRBCs, plasma cell (PC) number is reduced; the % of IgG1+ cells in PCs is also decreased in spleen
• after intraperitoneal injection of SRBCs, mice show a two-thirds reduction in total GC area / spleen area
• however, the GC dark zone/light zone ratio is not significantly altered
• after immunization with SRBCs, naive B cells, germinal center (GC) B cells, and plasma cells (PCs) display a significant reduction in mTORC1 activity, as shown by intracellular staining of S235/236-phospho-S6
• ex vivo activation of isolated naive B cells with anti-CD40 plus interleukin-4 (IL4) results in decreased class switch recombination to IgG1
• B cells exhibit a cell-intrinsic inability to become activated upon immunization with SRBCs
• activation of isolated naive B cells with anti-CD40 plus IL4 results in decreased in vitro B cell proliferation, as measured by decay of carboxyfluorescein succinimidyl ester (CFSE)
• 10 days after immunization with SRBCs, serum titers of IgG1 antibodies are decreased
• 10 days after immunization with SRBCs, serum titers of IgM antibodies are decreased

cellular
• activation of isolated naive B cells with anti-CD40 plus IL4 results in decreased in vitro B cell proliferation, as measured by decay of carboxyfluorescein succinimidyl ester (CFSE)
• after amino acid starvation followed by acute stimulation with amino acids, mouse embryonic fibroblasts (MEFs) derived from heterozygous females show a mild but consistent reduction in mTORC1 activity

liver/biliary system
• after amino acid starvation followed by acute stimulation with amino acids, primary hepatocytes from heterozygous females show a mild but consistent reduction in mTORC1 activity

growth/size/body
N
• 7- to -8-week-old heterozygotes are macroscopically normal with no significant differences in body weight or in liver, WAT, lung, heart, pancreas and spleen weight relative to wild-type controls




Genotype
MGI:7482168
cx3
Allelic
Composition
Rragcem1Efe/Rragc+
Tg(Vav-BCL2)69Jad/0
Genetic
Background
Not Specified
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rragcem1Efe mutation (0 available); any Rragc mutation (20 available)
Tg(Vav-BCL2)69Jad mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
neoplasm
• mice show a significant delay in follicular lymphoma (FL) and high-grade lymphoma development relative to mice carrying the transgene on a wild-type background; all tumors display pathognomonic features of FL and a similar Ki67 proliferative index in spleen
• although mice show a reduced incidence of FL when sacrificed at 250 days, the incidence, grade, tumor burden and PD1+ microenvironment of FL at euthanasia are similar to those in mice carrying the transgene on a wild-type background

immune system
• both unimmunized and SRBC-immunized mice exhibit a lower number of GC B cells in spleen than control mice carrying the transgene on a wild-type background
• mice exhibit a smaller spontaneous GC formation in spleen than mice carrying the transgene on a wild-type background
• mice exhibit delayed development of autoimmune glomerulonephritis with a lower number of IgG1+ deposits in the kidney than mice carrying the transgene on a wild-type background

hematopoietic system
• both unimmunized and SRBC-immunized mice exhibit a lower number of GC B cells in spleen than control mice carrying the transgene on a wild-type background
• mice exhibit a smaller spontaneous GC formation in spleen than mice carrying the transgene on a wild-type background





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last database update
12/10/2024
MGI 6.24
The Jackson Laboratory