Symbol Name ID |
Nlrp3
NLR family, pyrin domain containing 3 MGI:2653833 |
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 |
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Availability | Mouse Genotype | ||||||||||||||||||||||
Nlrp3tm3.1Hhf/Nlrp3+ |
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 08/02/2024 MGI 6.24 |
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