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Ncf1tm1Shl
Targeted Allele Detail
Nomenclature
Symbol: Ncf1tm1Shl
Name: neutrophil cytosolic factor 1; targeted mutation 1, Steven M Holland
MGI ID: MGI:1934143
Synonyms: p47phox-, p47phox-, p47phox-
Gene: Ncf1  Location: Chr5:134220053-134229625 bp, - strand  Genetic Position: Chr5, 74.47 cM
Ncf1tm1Shl/Ncf1tm1Shl mice develop lethal infections and granulomatous inflammation

Show the 1 phenotype image(s) involving this allele.

Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:28267
Parent Cell Line:  D3 (ES Cell)
Strain of Origin:  129S2/SvPas
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutation:    Insertion
 
Mutation detailsInsertion 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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 10 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 2 strains available      Cell Lines: 0 lines available
Carrying any Ncf1 Mutation:  27 strains or lines available
References
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
All:  98 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
08/04/2020
MGI 6.15
The Jackson Laboratory