Tirap^m1Btlr
Chemically induced Allele Detail

Summary

• Symbol: Tirap^m1Btlr
• Name: toll-interleukin 1 receptor (TIR) domain-containing adaptor protein; mutation 1, Bruce Beutler
• MGI ID: MGI:3774113
• Synonyms: torpid
• Gene: Tirap Location: Chr9:35095847-35111587 bp, - strand Genetic Position: Chr9, 19.99 cM, cytoband A5.3
• Alliance: Tirap^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: The torpid mutation, identified in an ENU mutagenesis screen for mutants with altered responses to Toll-like receptor (TLR) ligands, corresponds to an A-to-T transversion in the acceptor splice site of intron 6 (AG -> TG) (position 11943 in Genbank genomic region NC_000075). The gene has 7 exons, of which only the last three are translated. The presence of an in-frame stop codon in intron 6 causes premature termination of the protein after the anomalous addition of 3 amino acids, encoded by 9 intronic nucleotides, in place of the six C-terminal amino acids encoded by exon 7.
• Inheritance: Recessive

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 Tirap Mutation: 15 strains or lines available

References

• Original: J:133618 Berger M, et al., Torpid is an allele of Tirap and affects the immune system. MGI Direct Data Submission. 2008
• All: 2 reference(s)