Ncf1^m1J
Spontaneous Allele Detail

Summary

• Symbol: Ncf1^m1J
• Name: neutrophil cytosolic factor 1; mutation 1, Jackson
• MGI ID: MGI:2661962
• Synonyms: Ncf1*, p47^-, p47^phox, p47phox^-`, rs230824082
• Gene: Ncf1 Location: Chr5:134248907-134258479 bp, - strand Genetic Position: Chr5, 74.47 cM
• Alliance: Ncf1^m1J page

Ncf1^m1J/ Ncf1^m1J mice carrying the H2^q haplotype develop enhanced collagen II autoimmunity and chronic collagen II induced arthritis

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

Mutation origin

• Strain of Origin: B6.Cg-Dock7^m +/+ Lepr^db/J

Mutation description

• Allele Type: Spontaneous
• Mutation: Single point mutation
• Mutation details: The 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

Disease models

Expression

In Mice Carrying this Mutation:

2 RNA-Seq or microarray experiment(s)

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: 38 strains or lines available

References

• 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: 123 reference(s)