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Nfkb1M1Btlr
Chemically induced Allele Detail
Summary
Symbol: Nfkb1M1Btlr
Name: nuclear factor of kappa light polypeptide gene enhancer in B cells 1, p105; mutation 1, Bruce Beutler
MGI ID: MGI:5607766
Synonyms: Finlay
Gene: Nfkb1  Location: Chr3:135290416-135397308 bp, - strand  Genetic Position: Chr3, 62.82 cM
Alliance: Nfkb1M1Btlr page
Mutation
origin
Strain of Origin:  C57BL/6J
Project Collection: Beutler Mutagenetix
Mutation
description
Allele Type:    Chemically induced (ENU) (Not Specified)
Mutation:    Single point mutation
 
Mutation detailsThe molecular lesion is a T to A transversion at base pair 135,595,053 (v38) on chromosome 3, corresponding to base pair 96,495 in the GenBank genomic region NC_000069 encoding Nfkb1. This corresponds to nucleotide 2,253 in the NM_008689 mRNA sequence, in exon of 18 of 25 total exons, as well as to residue 1,765 in the ENSMUST00000164430 cDNA sequence, in exon 16 of 23 total exons. The mutation results in premature termination of the protein, instead of insertion of leucine (L), at amino acid position 584 (L584Ter). (J:216054)
Inheritance:    Semidominant
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 1 anatomical structure(s)
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Nfkb1 Mutation:  102 strains or lines available
References
Original:  J:216054 Wang KW, et al., Mutagenetix entry for Finlay. Updated on December 19, 2014. MGI Direct Data Submission. 2014;
All:  2 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
11/12/2024
MGI 6.24
The Jackson Laboratory