Phenotypes Associated with This Genotype

Genotype
MGI:5701638

• Allelic Composition: Sh3bp2^tm1.1Ics/Sh3bp2^tm1.1Ics
• Genetic Background: involves: 129S2/SvPas * C57BL/6

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

hematopoietic system

increased monocyte cell number ( J:221901 )

• mice develop monocytosis

homeostasis/metabolism

abnormal circulating cytokine level ( J:221901 )

• constitutive high levels of inflammatory cytokines in the serum

• mice challenged with LPS show an increase in inflammatory cytokines in the serum

increased circulating interleukin-12 level ( J:221901 )

increased circulating interleukin-6 level ( J:221901 )

increased circulating tumor necrosis factor level ( J:221901 )

immune system

increased monocyte cell number ( J:221901 )

• mice develop monocytosis

abnormal circulating cytokine level ( J:221901 )

• constitutive high levels of inflammatory cytokines in the serum

• mice challenged with LPS show an increase in inflammatory cytokines in the serum

increased circulating interleukin-12 level ( J:221901 )

increased circulating interleukin-6 level ( J:221901 )

increased circulating tumor necrosis factor level ( J:221901 )

enlarged lymph nodes ( J:221901 )

• mice develop lymphadenopathy

increased tumor necrosis factor secretion ( J:221901 )

• bone marrow-derived macrophages challenged with PAMP:LPS, CpG oligodeoxynucleotide (CpG ODN) or zymosan depleted of TLR-stimulating properties show enhanced TNF-alpha production

increased inflammatory response ( J:221901 )

• systemic inflammation with swelling of facial tissues

• oral antibiotic treatment to deplete the commensal microbiota does not decrease the inflammation

integument

head/neck swellings ( J:221901 )

• swelling of facial soft tissues with eyelid closure starting about 6 weeks after birth

skeleton

abnormal skeleton morphology ( J:221901 )

• severe bone losses on the skull, ribs, vertebrae, and legs

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
cherubism		DOID:1856	OMIM:118400	J:221901