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Phenotypes Associated with This Genotype
Genotype
MGI:3817497
Allelic
Composition
Sqstm1tm1Jjw/Sqstm1tm1Jjw
Genetic
Background
involves: 129 * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sqstm1tm1Jjw mutation (0 available); any Sqstm1 mutation (35 available)
phenotype observed in females
phenotype observed in males
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
• 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
DO ID OMIM ID(s) Ref(s)
NOT Paget's disease of bone DOID:5408 OMIM:PS167250
J:141179


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
12/10/2024
MGI 6.24
The Jackson Laboratory