Phenotypes Associated with This Genotype

Genotype
MGI:5904595

• Allelic Composition: Trem2^em2Bwef/Trem2^em2Bwef
• Genetic Background: involves: C57BL/6J * DBA/2J * FVB/N

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

immune system

increased macrophage apoptosis ( J:242126 )

• in bone marrow-derived macrophages

decreased macrophage proliferation ( J:242126 )

• in bone marrow-derived macrophages

impaired macrophage phagocytosis ( J:242126 )

• of E. coli or fibrillar Abeta1-42 in bone marrow-derived macrophages

decreased macrophage cell number ( J:242126 )

• fewer macrophages are produced from bone marrow cells stimulated with colony-stimulating factor compared with wild-type cells

decreased microglial cell activation ( J:242126 )

• age-dependent decrease in activity at 12 months of age

increased circulating interleukin-6 level ( J:242126 )

• following LPS-stimulation

increased circulating tumor necrosis factor level ( J:242126 )

• following LPS-stimulation

increased susceptibility to endotoxin shock ( J:242126 )

• LPS-treated mice exhibit increased IL6, TNFa and CCL2 serum levels compared with wild-type mice

nervous system

decreased microglial cell activation ( J:242126 )

• age-dependent decrease in activity at 12 months of age

cardiovascular system

abnormal blood volume ( J:242126 )

• reduced brain perfusion at 6 months of age

cellular

increased macrophage apoptosis ( J:242126 )

• in bone marrow-derived macrophages

decreased macrophage proliferation ( J:242126 )

• in bone marrow-derived macrophages

impaired macrophage phagocytosis ( J:242126 )

• of E. coli or fibrillar Abeta1-42 in bone marrow-derived macrophages

hematopoietic system

increased macrophage apoptosis ( J:242126 )

• in bone marrow-derived macrophages

decreased macrophage proliferation ( J:242126 )

• in bone marrow-derived macrophages

impaired macrophage phagocytosis ( J:242126 )

• of E. coli or fibrillar Abeta1-42 in bone marrow-derived macrophages

decreased macrophage cell number ( J:242126 )

• fewer macrophages are produced from bone marrow cells stimulated with colony-stimulating factor compared with wild-type cells

decreased microglial cell activation ( J:242126 )

• age-dependent decrease in activity at 12 months of age

homeostasis/metabolism

increased circulating interleukin-6 level ( J:242126 )

• following LPS-stimulation

increased circulating tumor necrosis factor level ( J:242126 )

• following LPS-stimulation

abnormal glucose homeostasis ( J:242126 )

• reduced cerebral glucose metabolism

• however, blood glucose levels are normal

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
frontotemporal dementia		DOID:9255	OMIM:600274	J:242126