Wdr41^m2Btlr
Chemically induced Allele Detail

Summary

• Symbol: Wdr41^m2Btlr
• Name: WD repeat domain 41; mutation 2, Bruce Beutler
• MGI ID: MGI:6272390
• Synonyms: metallica, Wdr41^mca
• Gene: Wdr41 Location: Chr13:95112852-95159821 bp, + strand Genetic Position: Chr13, 49.22 cM
• Alliance: Wdr41^m2Btlr 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: C to T transition at base pair 95,015,174 (v38) on chromosome 13, or base pair 38,960 in the GenBank genomic region NC_000079. The mutation corresponds to residue 1,036 (c.1036C>T) in the mRNA sequence NM_172590.3 within exon 10 of 14 total exons. The mutation results in substitution of glutamine 281 for a premature stop codon (p.Q281*) in the WDR41 protein. (J:268243)
• Inheritance: Recessive

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)