Lrba^em3Btlr
Endonuclease-mediated Allele Detail

Summary

• Symbol: Lrba^em3Btlr
• Name: LPS-responsive beige-like anchor; endonuclease-mediated mutation 3, Bruce Beutler
• MGI ID: MGI:6303988
• Gene: Lrba Location: Chr3:86131987-86689999 bp, + strand Genetic Position: Chr3, 37.83 cM, cytoband F1
• Alliance: Lrba^em3Btlr page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutation: Insertion
• Mutation details: The CRISPR/Cas9 system and sgRNA 5'-AATGCGAAACATGGTGGATC-3' was used to generate the mice. The CRISPR/Cas9 system generated a 1-base pair insertion at c.4179_4180insC (NM_030695.2). The mutation is predicted to cause a frame-shifted protein product beginning after amino acid 1298 of the protein and termination after the inclusion of 6 aberrant amino acids. (J:274652)

Phenotypes

Key:

hm	homozygous	ht	heterozygous	tg	involves transgenes	√	phenotype observed
cn	conditional genotype	cx	complex: > 1 genome feature	ot	other: hemizygous, indeterminate,...	N	normal phenotype

Genotype/
Background:

	Allelic Composition	Genetic Background	Cell Line(s)
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hm1	Lrba^em3Btlr/Lrba^em3Btlr	C57BL/6J-Lrba^em3Btlr

Phenotypes:

Affected Systems	hm1
show or hide all annotated terms
digestive/alimentary system	√
increased susceptibility to induced colitis	√
immune system	√
increased susceptibility to induced colitis	√

View phenotypes and curated references for all genotypes (concatenated display).

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

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)