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| Nomenclature |
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Symbol:
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Cxcr4tm1.1Bala
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Name:
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chemokine (C-X-C motif) receptor 4;
targeted mutation 1.1, Karl Balabanian
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MGI ID: |
MGI:5301553 |
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Synonyms: |
CXCR41013, Cxcr4tm1Bala |
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Gene:
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Cxcr4
Location:
Chr1:128588199-128592293 bp, - strand
Genetic Position: Chr1,
56.43 cM
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:178789
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Parent Cell Line:
| Not Specified (ES Cell) |
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Strain of Origin:
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129S2/SvPas
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Mutation
description |
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Allele
Type: | |
Targeted (knock-in) |
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Mutations: | |
Insertion, Nucleotide substitutions |
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Mutation details: Nucleotide 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)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Cxcr4 Mutation:
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9 strains or lines available |
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| References |
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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
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All: |
2 reference(s)
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Analysis Tools
