Ruvbl2^M1Btlr
Chemically induced Allele Detail

Summary

• Symbol: Ruvbl2^M1Btlr
• Name: RuvB-like AAA ATPase 2; mutation 1, Bruce Beutler
• MGI ID: MGI:5428996
• Synonyms: Worker
• Gene: Ruvbl2 Location: Chr7:45071320-45084817 bp, - strand Genetic Position: Chr7, 29.3 cM, cytoband B2
• Alliance: Ruvbl2^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 A transversion at position 3147 in the second nucleotide of intron 2. This mutation causes skipping of exon 2 and results in a frameshift upon splicing of exon 1 to exon 3. A premature stop codon following 27 aberrant amino acids encoded by exon 3 and part of exon 4 is expected to cause nonsense-mediated decay of the transcript. (J:185495) Additional incidental mutations were detected in sequencing for the causative mutation, Ruvbl2^M1Btlr, and may be present in stocks carrying this mutation.
• Inheritance: Dominant

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: 1 strain available Cell Lines: 0 lines available
• Carrying any Ruvbl2 Mutation: 29 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: 1 reference(s)