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Nfkb1M3Btlr
Chemically induced Allele Detail
Summary
Symbol: Nfkb1M3Btlr
Name: nuclear factor of kappa light polypeptide gene enhancer in B cells 1, p105; mutation 3, Bruce Beutler
MGI ID: MGI:6113381
Synonyms: Roomba
Gene: Nfkb1  Location: Chr3:135290416-135397308 bp, - strand  Genetic Position: Chr3, 62.82 cM
Alliance: Nfkb1M3Btlr 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 detailsENU-induced T to A transversion at base pair 135,612,412 (v38) on chromosome 3, corresponding to base pair 79,571 in the GenBank genomic region NC_000069 within the donor splice site of intron 12. The effect of the mutation at the cDNA and protein levels has not been examined, but the mutation is predicted to result in skipping of the 139-nucleotide exon 12 (out of 25 total exons), resulting in a frame-shifted protein product beginning after amino acid 306 of the protein and premature termination after the inclusion of 80 aberrant amino acids. (J:254821)
Inheritance:    Semidominant
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 2 anatomical structure(s)
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 Nfkb1 Mutation:  102 strains or lines available
References
Original:  J:254821 Choi JH, et al., Mutagenetix entry for Roomba. MGI Direct Data Submission. 2018;
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
11/05/2024
MGI 6.24
The Jackson Laboratory