Phenotypes Associated with This Genotype

Genotype
MGI:5788563

• Allelic Composition: Cln3^tm1Nbm/Cln3^tm1Nbm
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6J

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

immune system

abnormal macrophage physiology ( J:233445 )

♂ • mutant bone marrow macrophages exhibit increased adhesiveness to CD11c ligands in vitro

decreased macrophage cytokine production ( J:233445 )

♂ • bone marrow macrophages stimulated with LPS exhibit decreased secretion of IFN-gamma, IL-1beta, IL-17, IL-12p70 and IL-9

abnormal professional antigen presenting cell morphology ( J:233445 )

♂ • increase in surface and total protein levels of CD11c in antigen presenting cells (bone marrow macrophages, bone marrow dendritic cells, and peritoneal macrophages)

♂ • increase in surface levels of CD11c on mononuclear phagocytes (CD14+ monocytes in the blood and F4/80+ macrophages in the spleen)

♂ • decrease in surface levels of CD11b in bone marrow macrophages and dendritic cells and peritoneal macrophages

abnormal dendritic cell physiology ( J:233445 )

♂ • mutant bone marrow dendritic cells exhibit increased adhesiveness to CD11c ligands in vitro

hematopoietic system

abnormal macrophage physiology ( J:233445 )

♂ • mutant bone marrow macrophages exhibit increased adhesiveness to CD11c ligands in vitro

decreased macrophage cytokine production ( J:233445 )

♂ • bone marrow macrophages stimulated with LPS exhibit decreased secretion of IFN-gamma, IL-1beta, IL-17, IL-12p70 and IL-9

cellular

abnormal cell adhesion ( J:233445 )

♂ • mutant bone marrow dendritic cells and bone marrow marcrophages exhibit increased adhesiveness to CD11c ligands in vitro

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
neuronal ceroid lipofuscinosis 3		DOID:0110731	OMIM:204200	J:233445