Phenotypes associated with this allele

• Allele Symbol: Ncf4^tm1Pth
• Allele Name: targeted mutation 1, Phillip T Hawkins
• Allele ID: MGI:3701805
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ncf4^tm1Pth/Ncf4^tm1Pth	involves: 129P2/OlaHsd * C57BL/6	MGI:3712265
ht2	Ncf4^tm1Pth/Ncf4^tm2Pth	involves: 129P2/OlaHsd * C57BL/6	MGI:3712456

Genotype
MGI:3712265

hm1

• Allelic Composition: Ncf4^tm1Pth/Ncf4^tm1Pth
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

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

mortality/aging

embryonic lethality during organogenesis, incomplete penetrance ( J:119217 )

• essentially all homozygous embryos fail in development before day 10

• however, 1 of 50 predicted homozygotes from heterozygous crosses was live-born

Genotype
MGI:3712456

ht2

• Allelic Composition: Ncf4^tm1Pth/Ncf4^tm2Pth
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

immune system

immune system phenotype ( J:119217 )

N • blood cell counts are normal and bone marrow derived neutrophils (BMNs) exhibit normal differentiated phenotypes with respect to morphology and phagocytosis of bacteria, zymosan and IgG-latex beads

abnormal neutrophil physiology ( J:119217 )

• in response to formyl-methionylleucylphenylalanine (fMLP), total accumuation of reactive oxygen species (ROS) is reduced by ~19% compared to Ncf4^tm1Pth /+ heterozygotes

• intracellular ROS production in response to phagocytosis of IgG-latex beads is reduced by ~42% in primed compared to Ncf4^tm1Pth /+ heterozygotes

• intracellular ROS production in response to S. aureus phagocytosis in primed BMN cells is reduced ~60% compared to Ncf4^tm1Pth /+ heterozygotes

• initial phase of intracellular ROS formation in response to phorbyl myristate acetate (PMA) is reduced by almost half compared to heterozygous mice

increased susceptibility to bacterial infection ( J:119217 )

• mice have significant defect in ability to clear a S. aureus infection in vivo

hematopoietic system

abnormal neutrophil physiology ( J:119217 )

• in response to formyl-methionylleucylphenylalanine (fMLP), total accumuation of reactive oxygen species (ROS) is reduced by ~19% compared to Ncf4^tm1Pth /+ heterozygotes

• intracellular ROS production in response to phagocytosis of IgG-latex beads is reduced by ~42% in primed compared to Ncf4^tm1Pth /+ heterozygotes

• intracellular ROS production in response to S. aureus phagocytosis in primed BMN cells is reduced ~60% compared to Ncf4^tm1Pth /+ heterozygotes

• initial phase of intracellular ROS formation in response to phorbyl myristate acetate (PMA) is reduced by almost half compared to heterozygous mice