Phenotypes Associated with This Genotype

Genotype
MGI:3850050

• Allelic Composition: Nlrp3^tm1Hhf/Nlrp3⁺; Tg(CAG-cre/Esr1*)5Amc/?
• Genetic Background: involves: 129/Sv * C57BL/6 * CBA

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

immune system

abnormal macrophage physiology ( J:150054 )

• peritoneal macrophages are able to secrete IL-1beta in the absence of ATP when activated in vitro

abnormal dendritic cell physiology ( J:150054 )

• bone marrow derived dendritic cells hypersecrete the mature form of IL-1beta in response to activation

• the maximal response is 300-fold greater than controls

• DCs are able to secrete IL1-beta without the presence of exogenous ATP

abnormal dendritic cell antigen presentation ( J:150054 )

• mutant DCs cells have an enhanced ability to stimulate T cells to differentiate into a Th17 subtypes when presenting cognate antigen

• mutant DCs also enhance Th1 and Th2 differentation when co-cultured with T cells in the presence of polarizing cytokines

hematopoietic system

abnormal macrophage physiology ( J:150054 )

• peritoneal macrophages are able to secrete IL-1beta in the absence of ATP when activated in vitro

Mouse Models of Human Disease		OMIM ID	Ref(s)
Muckle-Wells Syndrome; MWS		191900	J:150054