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| Nomenclature |
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Symbol:
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Ncf1tm1Shl
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Name:
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neutrophil cytosolic factor 1;
targeted mutation 1, Steven M Holland
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MGI ID: |
MGI:1934143 |
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Synonyms: |
p47phox-, p47phox-, p47phox- |
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Gene:
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Ncf1
Location:
Chr5:134220053-134229625 bp, - strand
Genetic Position: Chr5,
74.47 cM
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Ncf1tm1Shl/Ncf1tm1Shl mice develop lethal infections and granulomatous inflammation
Show the 1 image(s) involving this allele.
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Mutation origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:28267
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Parent Cell Line:
| D3 (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-out) |
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Mutation: | |
Insertion |
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Mutation details: Insertion of a neomycin resistance cassette into exon 7 disrupted the gene. The region in the human ortholog that corresponds to exon 7 is known to be necessary for gene function. (J:28267, J:103487)
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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 Ncf1 Mutation:
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5 strains or lines available |
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| References |
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Original: |
J:28267
Jackson SH et al.,
"The p47phox mouse knock-out model of chronic granulomatous disease."
J Exp Med 1995 Sep 1;182(3):751-8
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All: |
75 reference(s)
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