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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Smcr8em1Btlr
endonuclease-mediated mutation 1, Bruce Beutler
MGI:6272384
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Smcr8em1Btlr/Smcr8em1Btlr C57BL/6J-Smcr8em1Btlr MGI:6272627
cx2
 		Smcr8em1Btlr/Smcr8em1Btlr
Tlr3tm1Flv/Tlr3tm1Flv
Tlr7tm1Aki/Tlr7tm1Aki
Tlr9tm1Aki/Tlr9tm1Aki 		involves: 129P2/OlaHsd * 129S1/Sv * C57BL/6J MGI:6272653


Genotype
MGI:6272627
hm1
Allelic
Composition		 Smcr8em1Btlr/Smcr8em1Btlr
Genetic
Background		 C57BL/6J-Smcr8em1Btlr
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Smcr8em1Btlr mutation (0 available); any Smcr8 mutation (40 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
homeostasis/metabolism

immune system
increased susceptibility to induced colitis ( J:268243 )
• dextran sulfate sodium (DSS)-induced
enlarged spleen ( J:268243 )
• at 12 months of age
increased CD4-positive, alpha-beta T cell number ( J:268243 )
• increased frequency of activated Cd4+ (CD44+CD62L CD4+) T cells in the peripheral blood
increased CD8-positive, alpha-beta T cell number ( J:268243 )
• increased frequency of activated Cd4+ (CD44+CD62L CD8+) T cells in the peripheral blood
enlarged lymph nodes ( J:268243 )
• at 12 months of age
increased interleukin-6 secretion ( J:268243 )
• in response to the TLR9 ligand CpG, TLR3 ligand poly(I:C), and the TLR7 ligand R848
increased tumor necrosis factor secretion ( J:268243 )
• in response to the TLR9 ligand CpG, TLR3 ligand poly(I:C), and the TLR7 ligand R848

digestive/alimentary system
increased susceptibility to induced colitis ( J:268243 )
• dextran sulfate sodium (DSS)-induced

cellular
abnormal lysosome morphology ( J:268243 )
• accumulation in macrophages
abnormal lysosome physiology ( J:268243 )
• impaired acidification of the phagolysosome in macrophages

hematopoietic system
enlarged spleen ( J:268243 )
• at 12 months of age
increased CD4-positive, alpha-beta T cell number ( J:268243 )
• increased frequency of activated Cd4+ (CD44+CD62L CD4+) T cells in the peripheral blood
increased CD8-positive, alpha-beta T cell number ( J:268243 )
• increased frequency of activated Cd4+ (CD44+CD62L CD8+) T cells in the peripheral blood

growth/size/body
enlarged spleen ( J:268243 )
• at 12 months of age




Genotype
MGI:6272653
cx2
Allelic
Composition		 Smcr8em1Btlr/Smcr8em1Btlr
Tlr3tm1Flv/Tlr3tm1Flv
Tlr7tm1Aki/Tlr7tm1Aki
Tlr9tm1Aki/Tlr9tm1Aki
Genetic
Background		 involves: 129P2/OlaHsd * 129S1/Sv * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Smcr8em1Btlr mutation (0 available); any Smcr8 mutation (40 available)
Tlr3tm1Flv mutation (6 available); any Tlr3 mutation (68 available)
Tlr7tm1Aki mutation (3 available); any Tlr7 mutation (20 available)
Tlr9tm1Aki mutation (7 available); any Tlr9 mutation (66 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
immune system
immune system phenotype ( J:268243 )
N
• unlike in Smcr8em1Btlr homozygotes, spleen and lymph nodes are restored to normal as well as is the hyperactivation of T cells and increased circulating IL12p40 levels




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