Phenotypes Associated with This Genotype

Genotype
MGI:3840592

• Allelic Composition: Hcst^tm1.1Cln/Hcst^tm1.1Cln
• Genetic Background: B6.129P2-Hcst^tm1.1Cln

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

skeleton

abnormal osteoclast differentiation ( J:147155 )

• in vitro osteoclastogenesis from bone marrow-derived monocyte/macrophage lineage cells is impaired, especially at suboptimal concentrations of RANKL and M-CSF, compared to similarly treated wild-type cells

• however, osteoblast growth and differentiation are normal

decreased osteoclast cell number ( J:147155 )

• at 6 months

abnormal osteoclast physiology ( J:147155 )

• at 6 months, osteoclast function is decreased compared to in wild-type mice

abnormal long bone metaphysis morphology ( J:147155 )

• at 6 months, mice exhibit a slight increase in metaphyses compared to wild-type mice

increased bone volume ( J:147155 )

• at 6 months, bone volume to tissue volume is increased compared to in wild-type mice

• however, bone volume to tissue volume is normal at 1.5 and 3 months of age

abnormal trabecular bone morphology ( J:147155 )

• at 6 months, mice exhibit a slight increase in trabecular bones compared to wild-type mice

osteopetrosis ( J:147155 )

• at 6 months, mice exhibit slight increases in metaphyses and trabecular bones compared to wild-type mice

immune system

abnormal osteoclast differentiation ( J:147155 )

• in vitro osteoclastogenesis from bone marrow-derived monocyte/macrophage lineage cells is impaired, especially at suboptimal concentrations of RANKL and M-CSF, compared to similarly treated wild-type cells

• however, osteoblast growth and differentiation are normal

decreased osteoclast cell number ( J:147155 )

• at 6 months

abnormal osteoclast physiology ( J:147155 )

• at 6 months, osteoclast function is decreased compared to in wild-type mice

hematopoietic system

abnormal osteoclast differentiation ( J:147155 )

• in vitro osteoclastogenesis from bone marrow-derived monocyte/macrophage lineage cells is impaired, especially at suboptimal concentrations of RANKL and M-CSF, compared to similarly treated wild-type cells

• however, osteoblast growth and differentiation are normal

decreased osteoclast cell number ( J:147155 )

• at 6 months

abnormal osteoclast physiology ( J:147155 )

• at 6 months, osteoclast function is decreased compared to in wild-type mice

cellular

abnormal osteoclast differentiation ( J:147155 )

• in vitro osteoclastogenesis from bone marrow-derived monocyte/macrophage lineage cells is impaired, especially at suboptimal concentrations of RANKL and M-CSF, compared to similarly treated wild-type cells

• however, osteoblast growth and differentiation are normal