Phenotypes associated with this allele

• Allele Symbol: Ncf2^{tm1b(EUCOMM)Wtsi}
• Allele Name: targeted mutation 1b, Wellcome Trust Sanger Institute
• Allele ID: MGI:6153187
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ncf2^tm1b(EUCOMM)Wtsi/Ncf2^tm1b(EUCOMM)Wtsi	B6(Cg)-Ncf2^tm1b(EUCOMM)Wtsi	MGI:6188106
hm2	Ncf2^tm1b(EUCOMM)Wtsi/Ncf2^tm1b(EUCOMM)Wtsi	NZM2328.B6(Cg)-Ncf2^tm1b(EUCOMM)Wtsi	MGI:6188109
ht3	Ncf2^tm1b(EUCOMM)Wtsi/Ncf2^+	NZM2328.B6(Cg)-Ncf2^tm1b(EUCOMM)Wtsi	MGI:6188110

Genotype
MGI:6188106

hm1

• Allelic Composition: Ncf2^{tm1b(EUCOMM)Wtsi}/Ncf2^{tm1b(EUCOMM)Wtsi}
• Genetic Background: B6(Cg)-Ncf2^{tm1b(EUCOMM)Wtsi}

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

hematopoietic system

decreased CD8-positive, alpha-beta T cell number ( J:260777 )

immune system

decreased CD8-positive, alpha-beta T cell number ( J:260777 )

lung inflammation ( J:260777 )

• increased susceptibility of A fumigatus-induced pneumonia

increased susceptibility to fungal infection ( J:260777 )

• following challenge with spores from A fumigatus, mice develop multiple foci of inflammatory cells containing germinated hyphae, in contrast, controls exhibit little response and no germinated hyphae

respiratory system

lung inflammation ( J:260777 )

• increased susceptibility of A fumigatus-induced pneumonia

Genotype
MGI:6188109

hm2

• Allelic Composition: Ncf2^{tm1b(EUCOMM)Wtsi}/Ncf2^{tm1b(EUCOMM)Wtsi}
• Genetic Background: NZM2328.B6(Cg)-Ncf2^{tm1b(EUCOMM)Wtsi}

cellular

abnormal redox activity ( J:260777 )

• NADPH oxidase activity in macrophages, dendritic cells and neutrophils is absent

hematopoietic system

increased B cell number ( J:260777 )

increased germinal center B cell number ( J:260777 )

increased follicular B cell number ( J:260777 )

increased T cell number ( J:260777 )

increased activated T cell number ( J:260777 )

• increased numbers of activated memory T cells

abnormal spleen germinal center morphology ( J:260777 )

• spontaneous germinal center formation

homeostasis/metabolism

increased urine protein level ( J:260777 )

• proteinuria phenotype is more severe than in heterozygote or NZM2328 mice

immune system

increased B cell number ( J:260777 )

increased germinal center B cell number ( J:260777 )

increased follicular B cell number ( J:260777 )

increased T cell number ( J:260777 )

increased activated T cell number ( J:260777 )

• increased numbers of activated memory T cells

abnormal spleen germinal center morphology ( J:260777 )

• spontaneous germinal center formation

increased susceptibility to systemic lupus erythematosus ( J:260777 )

increased anti-double stranded DNA antibody level ( J:260777 )

mortality/aging

premature death ( J:260777 )

• mice do not survive beyond 6 months

renal/urinary system

increased urine protein level ( J:260777 )

• proteinuria phenotype is more severe than in heterozygote or NZM2328 mice

abnormal renal glomerulus morphology ( J:260777 )

• kidney disease is observed by 4 months of age

• glomerular hypercellularity

abnormal mesangial matrix morphology ( J:260777 )

• mesangial matrix deposition

glomerular crescent ( J:260777 )

renal glomerular protein deposits ( J:260777 )

• glomerular deposition of IgG and C3

renal glomerular immunoglobulin deposits ( J:260777 )

• glomerular deposition of IgG

abnormal kidney interstitium morphology ( J:260777 )

• interstitial inflammation

Genotype
MGI:6188110

ht3

• Allelic Composition: Ncf2^{tm1b(EUCOMM)Wtsi}/Ncf2⁺
• Genetic Background: NZM2328.B6(Cg)-Ncf2^{tm1b(EUCOMM)Wtsi}

cellular

abnormal redox activity ( J:260777 )

• NADPH oxidase activity is reduced but not absent

hematopoietic system

increased B cell number ( J:260777 )

increased germinal center B cell number ( J:260777 )

increased follicular B cell number ( J:260777 )

increased T cell number ( J:260777 )

increased CD4-positive, CD25-positive, alpha-beta regulatory T cell number ( J:260777 )

increased CD4-positive, alpha-beta memory T cell number ( J:260777 )

• increased numbers of activated memory T cells

increased CD8-positive, alpha-beta T cell number ( J:260777 )

increased activated T cell number ( J:260777 )

• increased numbers of activated memory T cells

abnormal spleen germinal center morphology ( J:260777 )

• spontaneous germinal center formation

homeostasis/metabolism

increased urine protein level ( J:260777 )

• proteinuria

• phenotype is more severe than in NZM2328 mice

immune system

increased B cell number ( J:260777 )

increased germinal center B cell number ( J:260777 )

increased follicular B cell number ( J:260777 )

increased T cell number ( J:260777 )

increased CD4-positive, CD25-positive, alpha-beta regulatory T cell number ( J:260777 )

increased CD4-positive, alpha-beta memory T cell number ( J:260777 )

• increased numbers of activated memory T cells

increased CD8-positive, alpha-beta T cell number ( J:260777 )

increased activated T cell number ( J:260777 )

• increased numbers of activated memory T cells

abnormal spleen germinal center morphology ( J:260777 )

• spontaneous germinal center formation

increased susceptibility to systemic lupus erythematosus ( J:260777 )

increased anti-double stranded DNA antibody level ( J:260777 )

mortality/aging

premature death ( J:260777 )

• mice do not survive beyond 10 months

renal/urinary system

increased urine protein level ( J:260777 )

• proteinuria

• phenotype is more severe than in NZM2328 mice

abnormal renal glomerulus morphology ( J:260777 )

• kidney disease is observed by 4 months of age, but is not as severe as in homozygote