Lrba^em2Suc
Endonuclease-mediated Allele Detail

Summary

• Symbol: Lrba^em2Suc
• Name: LPS-responsive beige-like anchor; endonuclease-mediated mutation 2, Shinichi Uchida
• MGI ID: MGI:8353912
• Synonyms: Lrba^R1442Q
• Gene: Lrba Location: Chr3:86131987-86689999 bp, + strand Genetic Position: Chr3, 37.83 cM, cytoband F1
• Alliance: Lrba^em2Suc page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Altered localization, Humanized sequence)
• Mutation: Single point mutation
• Mutation details: Arginine codon 1442 (CGA) in exon 26 was changed to glutamine (CAA) (p.R1442Q) using an sgRNA and an ssODN template with CRISPR/Cas9 technology. The mutation is the equivalent of the human p.R1445Q mutation associated with chronic diarrhea and in mice leads to impaired urine concentrating ability and blood electrolyte imbalance. (J:384972)

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: 141 strains or lines available

References

• Original: J:384972 Nagaoka K, et al., LRBA organizes distinct vesicular trafficking systems in distal nephron segments for water and sodium conservation. Proc Natl Acad Sci U S A. 2026 May 5;123(18):e2525505123
• All: 1 reference(s)