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Phenotypes Associated with This Genotype
Genotype
MGI:3590146
Allelic
Composition
Ncf1tm1Hbd/Ncf1tm1Hbd
Genetic
Background
involves: 129
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ncf1tm1Hbd mutation (2 available); any Ncf1 mutation (37 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Plumonary crystal formation in Ncf1tm1Hbd/Ncf1tm1Hbd mouse lungs

immune system
• crystals of Chi3l3 are found in the lung, liver, and skin and are associated with abcesses in the liver and skin (J:74593)
• crystals are seen in mice older than 2 months and increase in density with age (J:74593)
• neutrophil respiratory burst in response to phorbol myristate acetate stimulation or Candida albicans is absent; however, LPS plus D-galactosamine-induced lethality is not different from wild-type mice (J:77597)
• consolidations of chronic inflammatory cell infiltrate, primarily macrophages, form around crystals in the lung

respiratory system
• crystals are seen in the lungs

liver/biliary system
• crystals are seen in the bile ducts

cardiovascular system
• coronary microvascular endothelial cells do not display increased reactive oxygen species production in response to stimulation with TNF

endocrine/exocrine glands
• crystals are seen in the bile ducts

integument
• abcesses with crystals adjacent to bacteria are seen

hematopoietic system
• crystals of Chi3l3 are found in the lung, liver, and skin and are associated with abcesses in the liver and skin (J:74593)
• crystals are seen in mice older than 2 months and increase in density with age (J:74593)
• neutrophil respiratory burst in response to phorbol myristate acetate stimulation or Candida albicans is absent; however, LPS plus D-galactosamine-induced lethality is not different from wild-type mice (J:77597)

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
chronic granulomatous disease DOID:3265 OMIM:PS306400
J:74593


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)
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last database update
03/12/2024
MGI 6.23
The Jackson Laboratory