Cxcr4^em1Jpp
Endonuclease-mediated Allele Detail

Summary

• Symbol: Cxcr4^em1Jpp
• Name: C-X-C motif chemokine receptor 4; endonuclease-mediated mutation 1, Joao P Pereira
• MGI ID: MGI:7520488
• Synonyms: Cxcr4^WHIM
• Gene: Cxcr4 Location: Chr1:128515936-128520030 bp, - strand Genetic Position: Chr1, 56.43 cM
• Alliance: Cxcr4^em1Jpp page

Mutation origin

• Strain of Origin: Not Specified

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Nucleotide substitutions
• Mutation details: CRISPR/Cas9 technology introduced c.1021C>T and c.1023G>A mutations in exon 2 resulting in the exchange of arginine at amino acid 341 with a STOP codon (p.R341*). This corresponds to the most common WHIM syndrome-causing p.R334* mutation. (J:339144)

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: 46 strains or lines available

References

• Original: J:339144 Zehentmeier S, et al., Dysregulated stem cell niches and altered lymphocyte recirculation cause B and T cell lymphopenia in WHIM syndrome. Sci Immunol. 2022 Sep 23;7(75):eabo3170
• All: 1 reference(s)