Wdr41^m1Btlr
Chemically induced Allele Detail

Summary

• Symbol: Wdr41^m1Btlr
• Name: WD repeat domain 41; mutation 1, Bruce Beutler
• MGI ID: MGI:6272389
• Synonyms: gogi
• Gene: Wdr41 Location: Chr13:95112852-95159821 bp, + strand Genetic Position: Chr13, 49.22 cM
• Alliance: Wdr41^m1Btlr 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 details: T to A transversion at base pair 95,015,217 (v38) on chromosome 13, or base pair 39,003 in the GenBank genomic region NC_000079 within the splice donor site of intron 10 (2-base pairs from exon 10) (NM_172590.3; 1077+2T>A). The effect of the mutation at the cDNA and protein levels has not been examined, but the mutation is predicted to result in the use of a cryptic site in intron 10. The resulting transcript would have a 4-base pair insertion of intron 10, which would cause a frame shifted protein product beginning after amino acid 294 of the protein and premature termination after the inclusion of 14 aberrant amino acids. (J:268243)
• Inheritance: Recessive

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 Wdr41 Mutation: 30 strains or lines available

References

• Original: J:268243 McAlpine W, et al., Excessive endosomal TLR signaling causes inflammatory disease in mice with defective SMCR8-WDR41-C9ORF72 complex function. Proc Natl Acad Sci U S A. 2018 Dec 4;115(49):E11523-E11531
• All: 1 reference(s)