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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Ncf1tm1Hbd
targeted mutation 1, Marcus Harbord
MGI:3576788
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Ncf1tm1Hbd/Ncf1tm1Hbd involves: 129 MGI:3590146
hm2
 		Ncf1tm1Hbd/Ncf1tm1Hbd involves: C57BL/6 MGI:4358422


Genotype
MGI:3590146
hm1
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 (38 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype

Plumonary crystal formation in Ncf1tm1Hbd/Ncf1tm1Hbd mouse lungs

immune system
abnormal neutrophil physiology ( J:74593 , J:77597 )
• 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)
granulomatous inflammation ( J:74593 )
• consolidations of chronic inflammatory cell infiltrate, primarily macrophages, form around crystals in the lung

respiratory system
abnormal lung morphology ( J:74593 )
• crystals are seen in the lungs

liver/biliary system
abnormal bile duct morphology ( J:74593 )
• crystals are seen in the bile ducts

cardiovascular system
abnormal vascular endothelial cell physiology ( J:97513 )
• coronary microvascular endothelial cells do not display increased reactive oxygen species production in response to stimulation with TNF

endocrine/exocrine glands
abnormal bile duct morphology ( J:74593 )
• crystals are seen in the bile ducts

integument
skin lesions ( J:74593 )
• abcesses with crystals adjacent to bacteria are seen

hematopoietic system
abnormal neutrophil physiology ( J:74593 , J:77597 )
• 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




Genotype
MGI:4358422
hm2
Allelic
Composition		 Ncf1tm1Hbd/Ncf1tm1Hbd
Genetic
Background		 involves: C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ncf1tm1Hbd mutation (2 available); any Ncf1 mutation (38 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
immune system
immune system phenotype ( J:118561 )
N
• macrophage killing of Calmette-Guerin mycobacteria following ATP stimulation is normal




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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Send questions and comments to User Support. 		last database update
11/19/2024
MGI 6.24 		The Jackson Laboratory