Phenotypes Associated with This Genotype

Genotype
MGI:3590146

• Allelic Composition: Ncf1^tm1Hbd/Ncf1^tm1Hbd
• Genetic Background: involves: 129

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

Plumonary crystal formation in Ncf1^tm1Hbd/Ncf1^tm1Hbd 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

liver abscess ( J:74593 )

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