Phenotypes associated with this allele

• Allele Symbol: Sh3bp2^tm1.1Ics
• Allele Name: targeted mutation 1.1, Mouse Clinical Institute
• Allele ID: MGI:5701634
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Sh3bp2^tm1.1Ics/Sh3bp2^tm1.1Ics	involves: 129S2/SvPas * C57BL/6	MGI:5701638
ht2	Sh3bp2^tm1.1Ics/Sh3bp2^+	involves: 129S2/SvPas * C57BL/6	MGI:5701639
cx3	Myd88^tm1Aki/Myd88^tm1Aki Sh3bp2^tm1.1Ics/Sh3bp2^tm1.1Ics	involves: 129P2/OlaHsd * C57BL/6	MGI:5701642

Genotype
MGI:5701638

hm1

• 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

Genotype
MGI:5701639

ht2

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

hematopoietic system

abnormal macrophage physiology ( J:221901 )

• phagocytic capacity of bone marrow-derived macrophages is exacerbated compared to wild-type macrophages, with macrophages showing increased clearance of E. coli

• treatment with cytochalasin B blocks the increased activity of E. coli engulfment by bone marrow-derived macrophages

homeostasis/metabolism

abnormal circulating cytokine level ( J:221901 )

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

immune system

abnormal macrophage physiology ( J:221901 )

• phagocytic capacity of bone marrow-derived macrophages is exacerbated compared to wild-type macrophages, with macrophages showing increased clearance of E. coli

• treatment with cytochalasin B blocks the increased activity of E. coli engulfment by bone marrow-derived macrophages

abnormal circulating cytokine level ( J:221901 )

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

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

• heterozygous mice orally treated with chronic LPS stimulation exhibit serum TNF-alpha levels similar to those of untreated homozygotes

increased susceptibility to bacterial infection ( J:221901 )

• mice infected with high doses of E. coli are more sensitive to septic shock compared to wild-type mice

Genotype
MGI:5701642

cx3

• Allelic Composition: Myd88^tm1Aki/Myd88^tm1Aki; Sh3bp2^tm1.1Ics/Sh3bp2^tm1.1Ics
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

immune system

immune system phenotype ( J:221901 )

N • serum TNF-alpha levels are similar to wild-type levels