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Symbol
Name
ID
Nlrp3
NLR family, pyrin domain containing 3
MGI:2653833
Phenotype annotations related to skeleton
Darker colors indicate more annotations
Human Phenotypes
Frontal bossing
Macrocephaly
Delayed closure of the anterior fontanelle
Camptodactyly of finger
Clubbing of fingers
Brachydactyly
Patellar overgrowth
Reduced bone mineral density
Abnormal joint morphology
Arthritis
Polyarticular arthritis
Joint dislocation
Skeletal dysplasia
Disease(s) Associated with NLRP3
autosomal dominant nonsyndromic deafness 34
CINCA Syndrome
familial cold autoinflammatory syndrome 1
Muckle-Wells syndrome

Mouse Phenotypes
abnormal osteoclast differentiation
increased osteoclast cell number
joint inflammation
osteomyelitis
decreased femur size
abnormal long bone hypertrophic chondrocyte zone
decreased width of hypertrophic chondrocyte zone
disorganized long bone epiphyseal plate
abnormal long bone epiphysis morphology
abnormal bone marrow cavity morphology
decreased bone mineral density
decreased compact bone area
decreased compact bone thickness
abnormal trabecular bone morphology
decreased bone trabecula number
decreased trabecular bone mass
decreased trabecular bone thickness
decreased bone mass
decreased chondrocyte number
abnormal skeleton development
increased bone resorption
abnormal chondrocyte physiology
Availability Mouse Genotype
Nlrp3tm3.1Hhf/Nlrp3+

Contributing Projects:
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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last database update
03/19/2024
MGI 6.23
The Jackson Laboratory