Cxcr4^tm1.1Bala
Targeted Allele Detail

Summary

• Symbol: Cxcr4^tm1.1Bala
• Name: C-X-C motif chemokine receptor 4; targeted mutation 1.1, Karl Balabanian
• MGI ID: MGI:5301553
• Synonyms: CXCR4¹⁰¹³, CXCR4^mut, Cxcr4^S338X, Cxcr4^tm1Bala, Cxcr4^WHIM
• Gene: Cxcr4 Location: Chr1:128515936-128520030 bp, - strand Genetic Position: Chr1, 56.43 cM
• Alliance: Cxcr4^tm1.1Bala page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:186735
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129S2/SvPas

Mutation description

• Allele Type: Targeted
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: Nucleotide substitutions (CT to GA) result in the creation of a premature stop codon (p.S345*) and the truncation of the last 15 residues of the C-terminal domain. This mutation has been identified in patients with warts, hypogammaglobulinemia, infections, and myelokathexis (WHIM) syndrome. In addition to this exon 2 mutation, a loxP site flanked neomycin resistance gene cassette was inserted into intron 2. The neo cassette was subsequently removed through cre-mediated recombination. (J:178789, J:186735)

Disease models

Expression

In Structures Affected by this Mutation:

6 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 Cxcr4 Mutation: 40 strains or lines available

References

• Original: J:186735 Balabanian K, et al., Proper desensitization of CXCR4 is required for lymphocyte development and peripheral compartmentalization in mice. Blood. 2012 Jun 14;119(24):5722-30
• All: 16 reference(s)