Phenotypes Associated with This Genotype

Genotype
MGI:3850052

• Allelic Composition: Nlrp3^tm2Hhf/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 (DCs) spontaneously secrete high levels of IL1-beta in response to cold (32 degrees) incubation

• DCs also hypersecrete the mature form of IL-1beta in response to activation

• the maximal response is 150-fold greater than controls

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

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		DO ID	OMIM ID(s)	Ref(s)
familial cold autoinflammatory syndrome 1		DOID:0090062	OMIM:120100	J:150054