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Spontaneous Allele Detail
Symbol: Ncf1m1J
Name: neutrophil cytosolic factor 1; mutation 1, Jackson
MGI ID: MGI:2661962
Synonyms: Ncf1*, p47-, p47phox, p47phox-`, rs230824082
Gene: Ncf1  Location: Chr5:134248907-134258479 bp, - strand  Genetic Position: Chr5, 74.47 cM
Alliance: Ncf1m1J page
Ncf1m1J/ Ncf1m1J mice carrying the H2q haplotype develop enhanced collagen II autoimmunity and chronic collagen II induced arthritis

Show the 2 phenotype image(s) involving this allele.

Strain of Origin:  B6.Cg-Dock7m +/+ Leprdb/J
Allele Type:    Spontaneous
Mutation:    Single point mutation
Mutation detailsThe mutation is an A-to-C transversion at the -2 position 5' off exon 8 in intron 7, changing splice acceptor site CAG to CCG. This results in aberrant splicing of the transcript. Immunoblotting detected no intact NCF1 protein in cells from these mice. (J:83428)
Inheritance:    Recessive
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 3 strains available      Cell Lines: 0 lines available
Carrying any Ncf1 Mutation:  30 strains or lines available
Original:  J:83428 Huang CK, et al., P47(phox)-deficient NADPH oxidase defect in neutrophils of diabetic mouse strains, C57BL/6J-m db/db and db/+. J Leukoc Biol. 2000 Feb;67(2):210-5
All:  110 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
MGI 6.22
The Jackson Laboratory