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Targeted Allele Detail
Symbol: Cxcr4tm1.1Bala
Name: chemokine (C-X-C motif) receptor 4; targeted mutation 1.1, Karl Balabanian
MGI ID: MGI:5301553
Synonyms: CXCR41013, CXCR4mut, Cxcr4S338X, Cxcr4tm1Bala
Gene: Cxcr4  Location: Chr1:128588199-128592293 bp, - strand  Genetic Position: Chr1, 56.43 cM
Germline Transmission:  Earliest citation of germline transmission: J:178789
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  129S2/SvPas
Allele Type:    Targeted
Mutations:    Insertion, Nucleotide substitutions
Mutation detailsNucleotide substitutions (CT to GA) result in the premature truncation of the last 15 residues of the C-tail domain. This mutation has been identified in patients with warts, hypogammaglobulinemia, infections, and myelokathexis (WHIM) syndrome. In addition to this exon 2 mutation, a floxed neomycin selection cassette was inserted downstream of exon 2. The floxed neo cassette was subsequently removed by cre excision. (J:178789, J:186735)
View phenotypes for all genotypes (concatenated display).
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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:  10 strains or lines available
Original:  J:178789 Mayol K, et al., Sequential desensitization of CXCR4 and S1P5 controls natural killer cell trafficking. Blood. 2011 Nov 3;118(18):4863-71
All:  4 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 6.01
The Jackson Laboratory