Ncf1^tm1Shl
Targeted Allele Detail

Summary

• Symbol: Ncf1^tm1Shl
• Name: neutrophil cytosolic factor 1; targeted mutation 1, Steven M Holland
• MGI ID: MGI:1934143
• Synonyms: p47^phox-, p47^phox-, p47phox-
• Gene: Ncf1 Location: Chr5:134248907-134258479 bp, - strand Genetic Position: Chr5, 74.47 cM
• Alliance: Ncf1^tm1Shl page

Ncf1^tm1Shl/Ncf1^tm1Shl 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 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)

Disease models

Expression

In Structures Affected by this Mutation:

13 anatomical structure(s)

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: 37 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: 106 reference(s)