Phenotypes Associated with This Genotype

Genotype
MGI:3818498

• Allelic Composition: Fcer1g^tm1Rav/Fcer1g^tm1Rav; Tyrobp^tm1Lll/Tyrobp^tm1Lll
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

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

skeleton

skeleton phenotype ( J:89583 )

N • unlike Src or Tnfsf11 mutants, mice develop teeth

short femur ( J:89583 )

increased diameter of femur ( J:89583 )

abnormal bone structure ( J:89583 )

• bones exhibit large areas of unresorbed bone with cartilaginous streaks unlike wild-type bone

abnormal osteoclast differentiation ( J:89583 )

• osteoclast precursors treated in vitro with Tnsfsl1 and macrophage colony stimulating factor exhibit defective osteoclast differentiation compared to similarly treated wild-type cells

• however, markers of mature osteoclast are present and large doses of macrophage colony stimulating factor or transfection of osteaclast precursors with the Tyrobp immunoreceptor signaling motifs can partially restore differentiation

abnormal bone marrow cavity morphology ( J:89583 )

• small

abnormal trabecular bone morphology ( J:89583 )

• mice exhibit an increased in trabecular number, trabecular thickness and decreased trabecular separation compared to wild-type mice

• trabecular structures are concave and solid with tube-like channels of arrow space unlike in wild trabeculae that are rod-like

increased bone mass ( J:89583 )

osteopetrosis ( J:89583 )

• mice exhibit a severe increase in bone volume compared to in wild-type mice

decreased bone resorption ( J:89583 )

• osteoclast fail to resorb mineralized matrix in vivo unlike wild-type cells

• treatment of osteoclast precursors with large doses of macrophage colony stimulating factor does not rescue bone resoprtion

• however, transfection of osteaclast precursors with the Tyrobp immunoreceptor signaling motifs partially restores osteaoclasts bone resorption

growth/size/body

round face ( J:89583 )

• rounded face

decreased body size ( J:89583 )

craniofacial

round face ( J:89583 )

• rounded face

immune system

abnormal osteoclast differentiation ( J:89583 )

• osteoclast precursors treated in vitro with Tnsfsl1 and macrophage colony stimulating factor exhibit defective osteoclast differentiation compared to similarly treated wild-type cells

• however, markers of mature osteoclast are present and large doses of macrophage colony stimulating factor or transfection of osteaclast precursors with the Tyrobp immunoreceptor signaling motifs can partially restore differentiation

hematopoietic system

abnormal osteoclast differentiation ( J:89583 )

• osteoclast precursors treated in vitro with Tnsfsl1 and macrophage colony stimulating factor exhibit defective osteoclast differentiation compared to similarly treated wild-type cells

• however, markers of mature osteoclast are present and large doses of macrophage colony stimulating factor or transfection of osteaclast precursors with the Tyrobp immunoreceptor signaling motifs can partially restore differentiation

limbs/digits/tail

short femur ( J:89583 )

increased diameter of femur ( J:89583 )

cellular

abnormal osteoclast differentiation ( J:89583 )

• osteoclast precursors treated in vitro with Tnsfsl1 and macrophage colony stimulating factor exhibit defective osteoclast differentiation compared to similarly treated wild-type cells

• however, markers of mature osteoclast are present and large doses of macrophage colony stimulating factor or transfection of osteaclast precursors with the Tyrobp immunoreceptor signaling motifs can partially restore differentiation