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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Snrnp40em1Btlr
endonuclease-mediated mutation 1, Bruce Beutler
MGI:6696146
Summary 3 genotypes


Genotype
MGI:6696329
hm1
Allelic
Composition		 Snrnp40em1Btlr/Snrnp40em1Btlr
Genetic
Background		 C57BL/6J-Snrnp40em1Btlr
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Snrnp40em1Btlr mutation (0 available); any Snrnp40 mutation (52 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging




Genotype
MGI:6696334
ht2
Allelic
Composition		 Snrnp40em1Btlr/Snrnp40em2Btlr
Genetic
Background		 C57BL/6J-Snrnp40em1Btlr/Snrnp40em2Btlr
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Snrnp40em1Btlr mutation (0 available); any Snrnp40 mutation (52 available)
Snrnp40em2Btlr mutation (0 available); any Snrnp40 mutation (52 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging




Genotype
MGI:6696347
ht3
Allelic
Composition		 Snrnp40em1Btlr/Snrnp40swp
Genetic
Background		 C57BL/6J-Snrnp40em1Btlr/Snrnp40swp
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Snrnp40em1Btlr mutation (0 available); any Snrnp40 mutation (52 available)
Snrnp40swp mutation (0 available); any Snrnp40 mutation (52 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
increased susceptibility to viral infection induced morbidity/mortality ( J:282417 )
• in mice infected with murine cytomegalovirus (MCMV) or herpes simplex virus type 1 (HSV-1)

immune system
immune system phenotype ( J:282417 )
N
• mice exhibit normal numbers of neutrophil, eosinophil, basophil, macrophage, and neutrophil numbers, and normal antigen-specific T cell proliferation, T-dependent and T-independent antibody responses, and cytotoxic T lymphocyte (CTL) activity
decreased T cell proliferation ( J:282417 )
• T cells exhibit defective cell cycle progression unlike in wild-type mice
abnormal thymus development ( J:282417 )
• blocked at the CD4-CD8- double negative stage and CD4+CD8+ double-positive stage
decreased T cell number ( J:282417 )
• reduced CD3+, CD4+ and CD8+ T cells
impaired natural killer cell mediated cytotoxicity ( J:282417 )
• in an in vivo assay
• however, NK cells treated with phorbol myristate acetate (PMA)/ionomycin exhibit normal degranulation, granzyme B release, and tumor necrosis factor and IFN-gamma production
abnormal CD4-positive, alpha-beta T cell physiology ( J:282417 )
• in response to homeostatic expansion signals after transfer into irradiated wild-type mice, CD4+ T cells fail to proliferate and undergo apoptosis unlike wild-type mice
abnormal CD8-positive, alpha-beta T cell physiology ( J:282417 )
• in response to homeostatic expansion signals after transfer into irradiated wild-type mice, CD8+ T cells fail to proliferate and undergo apoptosis unlike wild-type mice
increased circulating interferon-beta level ( J:282417 )
• in mice infected with murine cytomegalovirus (MCMV)
increased circulating interferon-gamma level ( J:282417 )
• in mice infected with murine cytomegalovirus (MCMV)
increased circulating interleukin-12 level ( J:282417 )
• in mice infected with murine cytomegalovirus (MCMV)
increased circulating interleukin-17 level ( J:282417 )
• in mice infected with murine cytomegalovirus (MCMV)
increased circulating interleukin-6 level ( J:282417 )
• in mice infected with murine cytomegalovirus (MCMV)
increased circulating tumor necrosis factor level ( J:282417 )
• in mice infected with murine cytomegalovirus (MCMV)
increased susceptibility to viral infection ( J:282417 )
• mice infected with murine cytomegalovirus (MCMV) or herpes simplex virus type 1 (HSV-1) exhibit increased viral titers in the spleen and liver, increased serum cytokine concentrations (Il6, Il12p70, TNF, IFNbeta, IFNgamma, and Il17a), and increased mortality compared with wild-type mice
increased susceptibility to viral infection induced morbidity/mortality ( J:282417 )
• in mice infected with murine cytomegalovirus (MCMV) or herpes simplex virus type 1 (HSV-1)

pigmentation
white spotting ( J:282417 )
• mice exhibit some white back hairs and white belly spots unlike control mice

growth/size/body
decreased body weight ( J:282417 )

homeostasis/metabolism
increased circulating interferon-beta level ( J:282417 )
• in mice infected with murine cytomegalovirus (MCMV)
increased circulating interferon-gamma level ( J:282417 )
• in mice infected with murine cytomegalovirus (MCMV)
increased circulating interleukin-12 level ( J:282417 )
• in mice infected with murine cytomegalovirus (MCMV)
increased circulating interleukin-17 level ( J:282417 )
• in mice infected with murine cytomegalovirus (MCMV)
increased circulating interleukin-6 level ( J:282417 )
• in mice infected with murine cytomegalovirus (MCMV)
increased circulating tumor necrosis factor level ( J:282417 )
• in mice infected with murine cytomegalovirus (MCMV)

cellular
decreased T cell proliferation ( J:282417 )
• T cells exhibit defective cell cycle progression unlike in wild-type mice

endocrine/exocrine glands
abnormal thymus development ( J:282417 )
• blocked at the CD4-CD8- double negative stage and CD4+CD8+ double-positive stage

hematopoietic system
decreased T cell proliferation ( J:282417 )
• T cells exhibit defective cell cycle progression unlike in wild-type mice
abnormal thymus development ( J:282417 )
• blocked at the CD4-CD8- double negative stage and CD4+CD8+ double-positive stage
abnormal bone marrow cell morphology/development ( J:282417 )
• reduced multipotent progenitor, mild reduction in megakaryocyte-erythroid progenitors, mild increase in granulocyte-macrophage progenitors
• however, mice exhibit normal numbers of long- and short-term hematopoietic stem cell numbers and common myeloid progenitors
thrombocytosis ( J:282417 )
• however, mean platelet volume is normal
decreased T cell number ( J:282417 )
• reduced CD3+, CD4+ and CD8+ T cells
impaired natural killer cell mediated cytotoxicity ( J:282417 )
• in an in vivo assay
• however, NK cells treated with phorbol myristate acetate (PMA)/ionomycin exhibit normal degranulation, granzyme B release, and tumor necrosis factor and IFN-gamma production
abnormal CD4-positive, alpha-beta T cell physiology ( J:282417 )
• in response to homeostatic expansion signals after transfer into irradiated wild-type mice, CD4+ T cells fail to proliferate and undergo apoptosis unlike wild-type mice
abnormal CD8-positive, alpha-beta T cell physiology ( J:282417 )
• in response to homeostatic expansion signals after transfer into irradiated wild-type mice, CD8+ T cells fail to proliferate and undergo apoptosis unlike wild-type mice

integument
white spotting ( J:282417 )
• mice exhibit some white back hairs and white belly spots unlike control mice




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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory