Phenotypes associated with this allele

• Allele Symbol: Sh3bp2⁺
• Allele Name: wild type
• Allele ID: MGI:2438213
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Sh3bp2^tm1.1Ics/Sh3bp2^+	involves: 129S2/SvPas * C57BL/6	MGI:5701639
ht2	Sh3bp2^tm1Bjro/Sh3bp2^+	involves: 129S4/SvJae * BALB/cJ * C57BL/6J	MGI:3699095

Genotype
MGI:5701639

ht1

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

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

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:3699095

ht2

• Allelic Composition: Sh3bp2^tm1Bjro/Sh3bp2⁺
• Genetic Background: involves: 129S4/SvJae * BALB/cJ * C57BL/6J

skeleton

abnormal osteoclast physiology ( J:117880 )

• increase in resorptive activity on dentin slices compared to wild-type cells

abnormal long bone morphology ( J:117880 )

• bone loss is detected in the long bones

abnormal bone structure ( J:117880 )

abnormal osteoclast differentiation ( J:117880 )

• bone marrow cells give rise to abnormally large osteoclasts even at concentrations of RANKL too low to induce osteoclast differentiation in wild-type cells and the number of nuclei per osteoclast is also increased relative to wild-type cells

increased osteoclast cell number ( J:117880 )

• increase in the numbers of osteoclasts in the jaws and femoral bone at 10 weeks of age

• increase in the fraction of the femoral trabecular bone perimeter that is occupied by osteoclasts

decreased trabecular bone volume ( J:117880 )

• reduced trabecular bone volume is seen in long bones; however trabecular thickness is similar to wild-type

abnormal compact bone morphology ( J:117880 )

• pitting of the cortical surface is seen particularly at the distal ends of limb bones

increased osteoblast cell number ( J:117880 )

• increase in the fraction of the femoral trabecular bone perimeter that is occupied by osteoblasts

decreased bone trabecula number ( J:117880 )

• reduced trabecular number is seen in long bones

abnormal bone ossification ( J:117880 )

immune system

immune system phenotype ( J:117880 )

N • unlike homozygous mice, heterozygotes do not develop enlarged lymph nodes, swelling of facial soft tissues, or elevated serum levels of TNF

abnormal osteoclast differentiation ( J:117880 )

• bone marrow cells give rise to abnormally large osteoclasts even at concentrations of RANKL too low to induce osteoclast differentiation in wild-type cells and the number of nuclei per osteoclast is also increased relative to wild-type cells

increased osteoclast cell number ( J:117880 )

• increase in the numbers of osteoclasts in the jaws and femoral bone at 10 weeks of age

• increase in the fraction of the femoral trabecular bone perimeter that is occupied by osteoclasts

abnormal osteoclast physiology ( J:117880 )

• increase in resorptive activity on dentin slices compared to wild-type cells

homeostasis/metabolism

abnormal enzyme/coenzyme level ( J:117880 )

• elevated serum levels of tartrate-resistant acidic phosphatase

hematopoietic system

abnormal osteoclast differentiation ( J:117880 )

• bone marrow cells give rise to abnormally large osteoclasts even at concentrations of RANKL too low to induce osteoclast differentiation in wild-type cells and the number of nuclei per osteoclast is also increased relative to wild-type cells

increased osteoclast cell number ( J:117880 )

• increase in the numbers of osteoclasts in the jaws and femoral bone at 10 weeks of age

• increase in the fraction of the femoral trabecular bone perimeter that is occupied by osteoclasts

abnormal osteoclast physiology ( J:117880 )

• increase in resorptive activity on dentin slices compared to wild-type cells

cellular

abnormal osteoclast differentiation ( J:117880 )

• bone marrow cells give rise to abnormally large osteoclasts even at concentrations of RANKL too low to induce osteoclast differentiation in wild-type cells and the number of nuclei per osteoclast is also increased relative to wild-type cells