About   Help   FAQ
Phenotypes Associated with This Genotype
Genotype
MGI:2175140
Allelic
Composition
Ncf1tm1Shl/Ncf1tm1Shl
Genetic
Background
involves: 129S2/SvPas * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ncf1tm1Shl mutation (2 available); any Ncf1 mutation (37 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Ncf1tm1Shl/Ncf1tm1Shl mice develop lethal infections and granulomatous inflammation

mortality/aging
• following infection with the types of organisms characteristic of human Chronic Granulomatous Disease (CGD) such as Staphylococcus and Lactobacillus, mice exhibit lethal infections not observed in wild-type mice

immune system
• following intraperitoneal injection with thioglycollate, mice exhibit an abnormally exuberant inflammation recruiting twice as many leukocytes as in wild-type mice
• impaired phagocytic response to Staphylococcal infection such that they produce no superoxide and kill Staphylococcus ineffectively
• unlike wild-type mice, mice develop severe infections in response to types of organisms characteristic of human Chronic Granulomatous Disease (CGD) such as Staphylococcus and Lactobacillus
• infections are characterized by adenopathy, splenomegaly, and granulomatous pneumonia with neutrophils, plasma cells, lymphocytes, macrophages and multinucleated giant cells

cardiovascular system
• hypoxic pulmonary vasoconstriction is significantly lower than for B6.129S-Cybbtm1Din or B6 controls
• esponse is primarily in the acute phase of the vasoconstrictor response while the sustained phase is similar to controls

muscle
• hypoxic pulmonary vasoconstriction is significantly lower than for B6.129S-Cybbtm1Din or B6 controls
• esponse is primarily in the acute phase of the vasoconstrictor response while the sustained phase is similar to controls

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
chronic granulomatous disease DOID:3265 OMIM:PS306400
J:28267


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
03/12/2024
MGI 6.23
The Jackson Laboratory