|
Symbol Name ID |
Ncf1
neutrophil cytosolic factor 1 MGI:97283 |
| * | Aspects of the system are reported to show a normal phenotype. |
| Darker colors indicate more annotations |
| Human Phenotypes | Abnormality of neutrophils |
Impaired oxidative burst |
Granulomatosis |
Sinusitis |
Lymphadenitis |
Lymphadenopathy |
Mediastinal lymphadenopathy |
Splenomegaly |
Rectal abscess |
Celiac disease |
Liver abscess |
Otitis media |
Recurrent otitis media |
Inflammatory abnormality of the eye |
Recurrent urinary tract infections |
Eczematoid dermatitis |
Recurrent bacterial skin infections |
Discoid lupus rash |
Osteomyelitis |
Recurrent pneumonia |
Absence of bactericidal oxidative respiratory burst in phagocytes |
Immunodeficiency |
Sepsis |
Recurrent Burkholderia cepacia infections |
Recurrent E. coli infections |
Recurrent Klebsiella infections |
Recurrent Serratia marcescens infections |
Recurrent Staphylococcus aureus infections |
Recurrent Aspergillus infections |
Recurrent respiratory infections |
Meningitis |
Cellulitis |
| Disease(s) Associated with NCF1 | ||||||||||||||||||||||||||||||||
| autosomal recessive chronic granulomatous disease 1 | ||||||||||||||||||||||||||||||||
| chronic granulomatous disease | ||||||||||||||||||||||||||||||||
| Williams-Beuren syndrome |
| Mouse Phenotypes | immune system phenotype |
enlarged spleen |
abnormal spleen morphology |
abnormal neutrophil physiology |
impaired granulocyte bactericidal activity |
abnormal macrophage physiology |
abnormal lymph node morphology |
enlarged lymph nodes |
abnormal inflammatory response |
increased acute inflammation |
granulomatous inflammation |
abnormal response to infection |
decreased susceptibility to Orthomyxoviridae infection |
increased susceptibility to infection |
|
| Availability | Mouse Genotype | ||||||||||||||
| Ncf1em1(IMPC)Mbp/Ncf1em1(IMPC)Mbp | |||||||||||||||
| Ncf1em1Nansh/Ncf1em1Nansh | * | ||||||||||||||
| Ncf1m1J/Ncf1m1J | |||||||||||||||
| Ncf1tm1Hbd/Ncf1tm1Hbd | * | ||||||||||||||
| Ncf1tm1Shl/Ncf1tm1Shl | |||||||||||||||
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 05/28/2024 MGI 6.13 |
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