Phenotypes associated with this allele

• Allele Symbol: Ncf1^m1J
• Allele Name: mutation 1, Jackson
• Allele ID: MGI:2661962
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ncf1^m1J/Ncf1^m1J	B6.Cg-Dock7^m +/+ Lepr^db/J	MGI:2661972
hm2	Ncf1^m1J/Ncf1^m1J	involves: C57BL/6	MGI:5555945
cx3	H2^q/? Ncf1^m1J/Ncf1^m1J	B6.Cg-Ncf1^m1J H2^q	MGI:3709555

Genotype
MGI:2661972

hm1

• Allelic Composition: Ncf1^m1J/Ncf1^m1J
• Genetic Background: B6.Cg-Dock7^m +/+ Lepr^db/J

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

immune system

impaired granulocyte bactericidal activity ( J:83428 )

• peritoneal neutrophils, bone marrow cells and neutrophils isolated from bone marrow fail to produce superoxide upon stimulation in vitro with N-formyl-methionyl-leucyl-phenylalanine (fMLP) or phorbol 12-myristate 13-acetate (PMA)

abnormal macrophage physiology ( J:83428 )

• peritoneal macrophages fail to produce superoxide upon stimulation in vitro with N-formyl-methionyl-leucyl-phenylalanine (fMLP) or phorbol 12-myristate 13-acetate (PMA)

decreased susceptibility to Orthomyxoviridae infection ( J:145306 )

• following exposure to inactivated H5N1 virus , acute-lung injury is attenuated compared to in wild-type mice

hematopoietic system

impaired granulocyte bactericidal activity ( J:83428 )

• peritoneal neutrophils, bone marrow cells and neutrophils isolated from bone marrow fail to produce superoxide upon stimulation in vitro with N-formyl-methionyl-leucyl-phenylalanine (fMLP) or phorbol 12-myristate 13-acetate (PMA)

abnormal macrophage physiology ( J:83428 )

• peritoneal macrophages fail to produce superoxide upon stimulation in vitro with N-formyl-methionyl-leucyl-phenylalanine (fMLP) or phorbol 12-myristate 13-acetate (PMA)

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
chronic granulomatous disease		DOID:3265	OMIM:PS306400	J:83428

Genotype
MGI:5555945

hm2

• Allelic Composition: Ncf1^m1J/Ncf1^m1J
• Genetic Background: involves: C57BL/6

cellular

oxidative stress ( J:207291 )

• in the sinoatrial node of STZ-treated mice

Genotype
MGI:3709555

cx3

• Allelic Composition: H2^q/?; Ncf1^m1J/Ncf1^m1J
• Genetic Background: B6.Cg-Ncf1^m1J H2^q

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

immune system

increased susceptibility to type IV hypersensitivity reaction ( J:92437 )

• the delayed-type hypersensitivity response against collagen II, not but OVA, is elevated compared to wild-type

decreased susceptibility to experimental autoimmune encephalomyelitis ( J:92437 )

• MOG(79-96) peptide-induced EAE is milder in mutants than in wild-type

increased susceptibility to experimental autoimmune encephalomyelitis ( J:92437 )

• MOG protein-induced EAE is more severe in mutants than in wild-type

increased susceptibility to induced arthritis ( J:92437 )

• mutants exhibit increased susceptibility to collagen II induced arthritis, developing more severe arthritis and earlier onset than wild-type

• levels of antibodies directed against the injected collagen II antigen are higher, with a predominant increase in IgG

rheumatoid arthritis ( J:92437 )

• many females develop severe arthritis during the first days after partus; arthritis is as severe and chronic as the collagen II induced arthritis

• females exhibit massive destruction of bone and cartilage in the ankle joint and have an elevated amount of antibodies against collagen II

skeleton

increased susceptibility to induced arthritis ( J:92437 )

• mutants exhibit increased susceptibility to collagen II induced arthritis, developing more severe arthritis and earlier onset than wild-type

• levels of antibodies directed against the injected collagen II antigen are higher, with a predominant increase in IgG

rheumatoid arthritis ( J:92437 )

• many females develop severe arthritis during the first days after partus; arthritis is as severe and chronic as the collagen II induced arthritis

• females exhibit massive destruction of bone and cartilage in the ankle joint and have an elevated amount of antibodies against collagen II

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
rheumatoid arthritis		DOID:7148	OMIM:180300	J:92437