Nfkbid^m1Btlr
Chemically induced Allele Detail

Summary

• Symbol: Nfkbid^m1Btlr
• Name: nuclear factor of kappa light polypeptide gene enhancer in B cells inhibitor, delta; mutation 1, Bruce Beutler
• MGI ID: MGI:5428994
• Synonyms: bumble, Nfkbid^bmb
• Gene: Nfkbid Location: Chr7:30121157-30128171 bp, + strand Genetic Position: Chr7, 17.52 cM
• Alliance: Nfkbid^m1Btlr page

Mutation origin

• Strain of Origin: C57BL/6J
• Project Collection: Beutler Mutagenetix

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: ENU-mutagenesis induced a T to G transversion within intron 4, two nucleotides from the previous exon. This mutation prevents the removal of the fourth intron and results in the addition of glycine and valine residues and a premature stop codon after exon 4. The transcript would only encode 65 of 327 amino acids. (J:185495) Additional incidental mutations were detected in sequencing for the causative mutation, Nfkbid^m1Btlr, and may be present in stocks carrying this mutation.
• Inheritance: Recessive

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 Nfkbid Mutation: 22 strains or lines available

References

• Original: J:185495 Arnold CN, et al., A forward genetic screen reveals roles for Nfkbid, Zeb1, and Ruvbl2 in humoral immunity. Proc Natl Acad Sci U S A. 2012 Jul 31;109(31):12286-93
• All: 7 reference(s)