Phenotypes Associated with This Genotype

Genotype
MGI:6473313

• Allelic Composition: Bbln^{tm1(KOMP)Wtsi}/Bbln^{tm1(KOMP)Wtsi}
• Genetic Background: involves: C57BL/6N

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

skeleton

skeleton phenotype ( J:296689 )

♂N • normal osteoblast surface and bone formation rate in femur

abnormal osteoclast differentiation ( J:296689 )

♂ • differentiation of BMMs (bone marrow-derived monocytes/macrophages) into large hyper-nucleated osteoclasts 3 days after RANKL stimulation in vitro

♂ • differentiation of BMMs (bone marrow-derived monocytes/macrophages) into multinucleated osteoclasts 1 day earlier after RANKL stimulation in vitro than wild-type

♂ • normal actin ring formation upon differentiation of BMMs (bone marrow-derived monocytes/macrophages) after RANKL stimulation in vitro

increased osteoclast cell number ( J:296689 )

♂ • longer survival (reduced apoptosis) of osteoclasts differentiated from BMMs (bone marrow-derived monocytes/macrophages) after RANKL stimulation in vitro

♂ • in femur

abnormal femur morphology ( J:296689 )

♂ • increase in bone erosion

decreased trabecular bone volume ( J:296689 )

♂ • decrease in bone volume of trabecular bone/ tissue volume (%) in male femur at age 9 weeks, getting more pronounced at 6 months

♂ • however, normal bone mass/volume in females, whether ovariectomized or not

decreased bone trabecula number ( J:296689 )

♂ • reduced trabecular number in femur at age 9 weeks, getting more pronounced at 6 months

increased bone trabecular spacing ( J:296689 )

• increased trabecular separation

increased bone resorption ( J:296689 )

♂ • increase in bone erosion in femur

cellular

abnormal osteoclast differentiation ( J:296689 )

♂ • differentiation of BMMs (bone marrow-derived monocytes/macrophages) into large hyper-nucleated osteoclasts 3 days after RANKL stimulation in vitro

♂ • differentiation of BMMs (bone marrow-derived monocytes/macrophages) into multinucleated osteoclasts 1 day earlier after RANKL stimulation in vitro than wild-type

♂ • normal actin ring formation upon differentiation of BMMs (bone marrow-derived monocytes/macrophages) after RANKL stimulation in vitro

limbs/digits/tail

abnormal femur morphology ( J:296689 )

♂ • increase in bone erosion

immune system

abnormal osteoclast differentiation ( J:296689 )

♂ • differentiation of BMMs (bone marrow-derived monocytes/macrophages) into large hyper-nucleated osteoclasts 3 days after RANKL stimulation in vitro

♂ • differentiation of BMMs (bone marrow-derived monocytes/macrophages) into multinucleated osteoclasts 1 day earlier after RANKL stimulation in vitro than wild-type

♂ • normal actin ring formation upon differentiation of BMMs (bone marrow-derived monocytes/macrophages) after RANKL stimulation in vitro

increased osteoclast cell number ( J:296689 )

♂ • longer survival (reduced apoptosis) of osteoclasts differentiated from BMMs (bone marrow-derived monocytes/macrophages) after RANKL stimulation in vitro

♂ • in femur

hematopoietic system

abnormal osteoclast differentiation ( J:296689 )

♂ • differentiation of BMMs (bone marrow-derived monocytes/macrophages) into large hyper-nucleated osteoclasts 3 days after RANKL stimulation in vitro

♂ • differentiation of BMMs (bone marrow-derived monocytes/macrophages) into multinucleated osteoclasts 1 day earlier after RANKL stimulation in vitro than wild-type

♂ • normal actin ring formation upon differentiation of BMMs (bone marrow-derived monocytes/macrophages) after RANKL stimulation in vitro

increased osteoclast cell number ( J:296689 )

♂ • longer survival (reduced apoptosis) of osteoclasts differentiated from BMMs (bone marrow-derived monocytes/macrophages) after RANKL stimulation in vitro

♂ • in femur