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Phenotypes Associated with This Genotype
Genotype
MGI:5517789
Allelic
Composition
Nlrp3tm3.1Hhf/Nlrp3+
Genetic
Background
involves: 129
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nlrp3tm3.1Hhf mutation (0 available); any Nlrp3 mutation (8 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Nlrp3tm3.1Hhf/Nlrp3+ mice display joint inflammation

mortality/aging
• mice usually die by 2 to 3 weeks of age (J:202147)
• mice usually die by 2 to 3 weeks of age (J:202147)

skeleton
• resulting in increased bone resorption (J:202147)
• resulting in increased bone resorption (J:202147)
• decreased femur size (J:202147)
• decreased femur size (J:202147)
• increased relative to small bone size (J:202147)
• increased relative to small bone size (J:202147)
• whole body as well as cortical and trabecular compartments of the axial and appendicular skeleton (J:202147)
• whole body as well as cortical and trabecular compartments of the axial and appendicular skeleton (J:202147)
• increased trabecular in the region continguous to the spike but not the region that contains this structure (J:202147)
• increased trabecular in the region continguous to the spike but not the region that contains this structure (J:202147)
• in the region continguous to the spike but not the region that contains this structure (J:202147)
• in the region continguous to the spike but not the region that contains this structure (J:202147)
• in the region continguous to the spike but not the region that contains this structure (J:202147)
• in the region continguous to the spike but not the region that contains this structure (J:202147)
• in the region continuous to the spike area (J:202147)
• in the region continuous to the spike area (J:202147)
• in the central zone of the epiphysis, as determined by collagen staining (J:202147)
• in the central zone of the epiphysis, as determined by collagen staining (J:202147)
• stunted skeletal growth (J:202147)
• small skeleton at P13 (J:202147)
• stunted skeletal growth (J:202147)
• small skeleton at P13 (J:202147)
• higher osteoclast formation potential in the bone marrow (J:202147)
• higher osteoclast formation potential in the bone marrow (J:202147)
• reduced thickness (J:202147)
• reduced thickness (J:202147)
• especially in the mid region (J:202147)
• especially in the mid region (J:202147)
• with tissue spikes that extend into the primary spongiosa of the distal femur (J:202147)
• with tissue spikes that extend into the primary spongiosa of the distal femur (J:202147)
• acellular central structure in the epiphysis of the distal femur and proximal tibia (J:202147)
• acellular central structure in the epiphysis of the distal femur and proximal tibia (J:202147)
• due to inflammation (J:202147)
• due to inflammation (J:202147)
• increased apoptosis particularly in the area surrounding the spike (J:202147)
• increased apoptosis particularly in the area surrounding the spike (J:202147)

immune system
N
• mice exhibit normal serum levels of IL1a, IL2, IL10 and IL17 (J:202147)
• mice exhibit normal serum levels of IL1a, IL2, IL10 and IL17 (J:202147)
• higher osteoclast formation potential in the bone marrow (J:202147)
• higher osteoclast formation potential in the bone marrow (J:202147)
• in various tissues, including joints and meninges (J:202147)
• in various tissues, including joints and meninges (J:202147)
• circulating and in the bone marrow (J:202147)
• circulating and in the bone marrow (J:202147)
• severe (J:202147)
• severe (J:202147)
• neutrophilic in the periphery (J:202147)
• neutrophilic in the periphery (J:202147)
• inflammatory monocytes in the bone marrow (J:202147)
• inflammatory monocytes in the bone marrow (J:202147)
• increased serum chemokine (eotaxin, KC, MCP-1, MIP-1a, MIP-1b and RANTES) levels (J:202147)
• increased serum chemokine (eotaxin, KC, MCP-1, MIP-1a, MIP-1b and RANTES) levels (J:202147)
• 3-fold in the bone marrow (J:202147)
• 3-fold in the bone marrow (J:202147)
• systemic inflammation (J:202147)
• systemic inflammation (J:202147)
• meningitis in the brain (J:202147)
• meningitis in the brain (J:202147)
• resulting in increased bone resorption (J:202147)
• resulting in increased bone resorption (J:202147)

growth/size/body
• by P5 (J:202147)
• by P5 (J:202147)
• by P5 (J:202147)
• by P5 (J:202147)

cellular
• higher osteoclast formation potential in the bone marrow (J:202147)
• higher osteoclast formation potential in the bone marrow (J:202147)
• of bone marrow cells (J:202147)
• of bone marrow cells (J:202147)

nervous system
• meningitis in the brain (J:202147)
• meningitis in the brain (J:202147)

homeostasis/metabolism
• increased serum chemokine (eotaxin, KC, MCP-1, MIP-1a, MIP-1b and RANTES) levels (J:202147)
• increased serum chemokine (eotaxin, KC, MCP-1, MIP-1a, MIP-1b and RANTES) levels (J:202147)

hematopoietic system
• higher osteoclast formation potential in the bone marrow (J:202147)
• higher osteoclast formation potential in the bone marrow (J:202147)
• in various tissues, including joints and meninges (J:202147)
• in various tissues, including joints and meninges (J:202147)
• circulating and in the bone marrow (J:202147)
• circulating and in the bone marrow (J:202147)
• severe (J:202147)
• severe (J:202147)
• neutrophilic in the periphery (J:202147)
• neutrophilic in the periphery (J:202147)
• inflammatory monocytes in the bone marrow (J:202147)
• inflammatory monocytes in the bone marrow (J:202147)
• decreased proliferation and survival (J:202147)
• decreased proliferation and survival (J:202147)

limbs/digits/tail
• decreased femur size (J:202147)
• decreased femur size (J:202147)

Mouse Models of Human Disease
OMIM ID Ref(s)
CINCA Syndrome; CINCA 607115 J:202147


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
01/26/2016
MGI 6.02
The Jackson Laboratory