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Nlrp3M8Btlr
Chemically induced Allele Detail
Summary
Symbol: Nlrp3M8Btlr
Name: NLR family, pyrin domain containing 3; mutation 8, Bruce Beutler
MGI ID: MGI:5613597
Synonyms: Park5
Gene: Nlrp3  Location: Chr11:59432395-59457781 bp, + strand  Genetic Position: Chr11, 37.73 cM, cytoband B1.3
Alliance: Nlrp3M8Btlr page
Mutation
origin
Strain of Origin:  C57BL/6J
Project Collection: Beutler Mutagenetix
Mutation
description
Allele Type:    Chemically induced (ENU) (Null/knockout)
Mutation:    Single point mutation
 
Mutation detailsENU mutagenesis induced a T to A transversion at base pair 59,548,476 (v38) on chromosome 11, or base pair 6,908 in the GenBank genomic region NC_000077. The mutation corresponds to residue 1,104 in the mRNA sequence NM_145827 within exon 4 of 10 total exons. The mutation results in an isoleucine (I) to asparagine (N) substitution at position 293 (I293N) in the protein, and is strongly predicted by Polyphen-2 to cause loss of function (score = 0.991). (J:217294)
Inheritance:    Semidominant
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Nlrp3 Mutation:  64 strains or lines available
References
Original:  J:217294 Shi H, et al., Mutagenetix entry for Park5. Updated on January 23, 2015. MGI Direct Data Submission. 2015;
All:  1 reference(s)

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
12/10/2024
MGI 6.24
The Jackson Laboratory