Mouse Genome Informatics
hm
    Sqstm1tm1Jjw/Sqstm1tm1Jjw
involves: 129 * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
skeleton
N
• despite the increased osteoclastic potential of bone marrow cells, no abnormal bone phenotype is observed in histotomorphometric evaluation of vertebral bones from mice up to 1 year in age (J:141179)
• unfractionated bone marrow cells produce more osteoclasts in vitro when cultured with various differentiation factors
• maximal numbers of osteoclasts form from bone marrow cultures after 6 days in the presence of RANKL, while maximal numbers are not reached until 9 days in wild-type cultures
• highly purified osteoclast precursors form increased numbers of osteoclasts in response to TNF and RANKL compared to wild-type
• highest number of osteoclasts develop when mutant precursors are cultured with mutant bone marrow stromal cells
• mutant bone marrow stromal cells double the differentiation rate in vitro of wild-type osteoclast precursors into osteoclasts
• a 1.5-fold increase in bone resorption is observed when osteoclasts are treated with RANKL (50 ng/ml) and cultured on dentin
• however, the area resorbed per osteoclasts is not different between mutant and wild-type cells

hematopoietic system
• unfractionated bone marrow cells produce more osteoclasts in vitro when cultured with various differentiation factors
• maximal numbers of osteoclasts form from bone marrow cultures after 6 days in the presence of RANKL, while maximal numbers are not reached until 9 days in wild-type cultures
• highly purified osteoclast precursors form increased numbers of osteoclasts in response to TNF and RANKL compared to wild-type
• highest number of osteoclasts develop when mutant precursors are cultured with mutant bone marrow stromal cells
• mutant bone marrow stromal cells double the differentiation rate in vitro of wild-type osteoclast precursors into osteoclasts
• a 1.5-fold increase in bone resorption is observed when osteoclasts are treated with RANKL (50 ng/ml) and cultured on dentin
• however, the area resorbed per osteoclasts is not different between mutant and wild-type cells

immune system
• unfractionated bone marrow cells produce more osteoclasts in vitro when cultured with various differentiation factors
• maximal numbers of osteoclasts form from bone marrow cultures after 6 days in the presence of RANKL, while maximal numbers are not reached until 9 days in wild-type cultures
• highly purified osteoclast precursors form increased numbers of osteoclasts in response to TNF and RANKL compared to wild-type
• highest number of osteoclasts develop when mutant precursors are cultured with mutant bone marrow stromal cells
• mutant bone marrow stromal cells double the differentiation rate in vitro of wild-type osteoclast precursors into osteoclasts
• a 1.5-fold increase in bone resorption is observed when osteoclasts are treated with RANKL (50 ng/ml) and cultured on dentin
• however, the area resorbed per osteoclasts is not different between mutant and wild-type cells

cellular
• unfractionated bone marrow cells produce more osteoclasts in vitro when cultured with various differentiation factors
• maximal numbers of osteoclasts form from bone marrow cultures after 6 days in the presence of RANKL, while maximal numbers are not reached until 9 days in wild-type cultures
• highly purified osteoclast precursors form increased numbers of osteoclasts in response to TNF and RANKL compared to wild-type
• highest number of osteoclasts develop when mutant precursors are cultured with mutant bone marrow stromal cells
• mutant bone marrow stromal cells double the differentiation rate in vitro of wild-type osteoclast precursors into osteoclasts

Mouse Models of Human Disease
OMIM IDRef(s)
NOT Paget Disease of Bone; PDB 602080 J:141179