Lrba^m1Btlr
Chemically induced Allele Detail

Summary

• Symbol: Lrba^m1Btlr
• Name: LPS-responsive beige-like anchor; mutation 1, Bruce Beutler
• MGI ID: MGI:6303944
• Synonyms: oscar
• Gene: Lrba Location: Chr3:86131987-86689999 bp, + strand Genetic Position: Chr3, 37.83 cM, cytoband F1
• Alliance: Lrba^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: C to T transition at base pair 86,350,304 (v38) on chromosome 3, or base pair 126,401 in the GenBank genomic region NC_000069 encoding Lrba. The mutation corresponds to residue 4,159 (c.4159C>T) in the mRNA sequence NM_030695.2 within exon 24 of 57 total exons. The mutation results in substitution of glutamine 1,292 for a premature stop codon (p.Q1292*) in the LRBA protein. (J:274652)
• 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: 0 strains available Cell Lines: 0 lines available
• Carrying any Lrba Mutation: 139 strains or lines available

Notes

https://mutagenetix.utsouthwestern.edu/phenotypic/phenotypic_rec.cfm?pk=1571

References

• Original: J:274652 Wang K, et al., Enhanced susceptibility to chemically induced colitis caused by excessive endosomal TLR signaling in LRBA-deficient mice. Proc Natl Acad Sci U S A. 2019
• All: 1 reference(s)