Ncf1<m1J> Spontaneous Allele Detail MGI Mouse (MGI:2661962)

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:

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

Phenotypes

View phenotypes and curated references for all genotypes (concatenated display).

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)

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