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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 (8 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 (J:141179)
• 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 (J:141179)
• 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 (J:141179)
• highly purified osteoclast precursors form increased numbers of osteoclasts in response to TNF and RANKL compared to wild-type (J:141179)
• highest number of osteoclasts develop when mutant precursors are cultured with mutant bone marrow stromal cells (J:141179)
• mutant bone marrow stromal cells double the differentiation rate in vitro of wild-type osteoclast precursors into osteoclasts (J:141179)
• unfractionated bone marrow cells produce more osteoclasts in vitro when cultured with various differentiation factors (J:141179)
• 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 (J:141179)
• highly purified osteoclast precursors form increased numbers of osteoclasts in response to TNF and RANKL compared to wild-type (J:141179)
• highest number of osteoclasts develop when mutant precursors are cultured with mutant bone marrow stromal cells (J:141179)
• mutant bone marrow stromal cells double the differentiation rate in vitro of wild-type osteoclast precursors into osteoclasts (J:141179)
• a 1.5-fold increase in bone resorption is observed when osteoclasts are treated with RANKL (50 ng/ml) and cultured on dentin (J:141179)
• however, the area resorbed per osteoclasts is not different between mutant and wild-type cells (J:141179)
• a 1.5-fold increase in bone resorption is observed when osteoclasts are treated with RANKL (50 ng/ml) and cultured on dentin (J:141179)
• however, the area resorbed per osteoclasts is not different between mutant and wild-type cells (J:141179)

hematopoietic system
• unfractionated bone marrow cells produce more osteoclasts in vitro when cultured with various differentiation factors (J:141179)
• 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 (J:141179)
• highly purified osteoclast precursors form increased numbers of osteoclasts in response to TNF and RANKL compared to wild-type (J:141179)
• highest number of osteoclasts develop when mutant precursors are cultured with mutant bone marrow stromal cells (J:141179)
• mutant bone marrow stromal cells double the differentiation rate in vitro of wild-type osteoclast precursors into osteoclasts (J:141179)
• unfractionated bone marrow cells produce more osteoclasts in vitro when cultured with various differentiation factors (J:141179)
• 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 (J:141179)
• highly purified osteoclast precursors form increased numbers of osteoclasts in response to TNF and RANKL compared to wild-type (J:141179)
• highest number of osteoclasts develop when mutant precursors are cultured with mutant bone marrow stromal cells (J:141179)
• mutant bone marrow stromal cells double the differentiation rate in vitro of wild-type osteoclast precursors into osteoclasts (J:141179)
• a 1.5-fold increase in bone resorption is observed when osteoclasts are treated with RANKL (50 ng/ml) and cultured on dentin (J:141179)
• however, the area resorbed per osteoclasts is not different between mutant and wild-type cells (J:141179)
• a 1.5-fold increase in bone resorption is observed when osteoclasts are treated with RANKL (50 ng/ml) and cultured on dentin (J:141179)
• however, the area resorbed per osteoclasts is not different between mutant and wild-type cells (J:141179)

immune system
• unfractionated bone marrow cells produce more osteoclasts in vitro when cultured with various differentiation factors (J:141179)
• 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 (J:141179)
• highly purified osteoclast precursors form increased numbers of osteoclasts in response to TNF and RANKL compared to wild-type (J:141179)
• highest number of osteoclasts develop when mutant precursors are cultured with mutant bone marrow stromal cells (J:141179)
• mutant bone marrow stromal cells double the differentiation rate in vitro of wild-type osteoclast precursors into osteoclasts (J:141179)
• unfractionated bone marrow cells produce more osteoclasts in vitro when cultured with various differentiation factors (J:141179)
• 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 (J:141179)
• highly purified osteoclast precursors form increased numbers of osteoclasts in response to TNF and RANKL compared to wild-type (J:141179)
• highest number of osteoclasts develop when mutant precursors are cultured with mutant bone marrow stromal cells (J:141179)
• mutant bone marrow stromal cells double the differentiation rate in vitro of wild-type osteoclast precursors into osteoclasts (J:141179)
• a 1.5-fold increase in bone resorption is observed when osteoclasts are treated with RANKL (50 ng/ml) and cultured on dentin (J:141179)
• however, the area resorbed per osteoclasts is not different between mutant and wild-type cells (J:141179)
• a 1.5-fold increase in bone resorption is observed when osteoclasts are treated with RANKL (50 ng/ml) and cultured on dentin (J:141179)
• however, the area resorbed per osteoclasts is not different between mutant and wild-type cells (J:141179)

cellular
• unfractionated bone marrow cells produce more osteoclasts in vitro when cultured with various differentiation factors (J:141179)
• 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 (J:141179)
• highly purified osteoclast precursors form increased numbers of osteoclasts in response to TNF and RANKL compared to wild-type (J:141179)
• highest number of osteoclasts develop when mutant precursors are cultured with mutant bone marrow stromal cells (J:141179)
• mutant bone marrow stromal cells double the differentiation rate in vitro of wild-type osteoclast precursors into osteoclasts (J:141179)
• unfractionated bone marrow cells produce more osteoclasts in vitro when cultured with various differentiation factors (J:141179)
• 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 (J:141179)
• highly purified osteoclast precursors form increased numbers of osteoclasts in response to TNF and RANKL compared to wild-type (J:141179)
• highest number of osteoclasts develop when mutant precursors are cultured with mutant bone marrow stromal cells (J:141179)
• mutant bone marrow stromal cells double the differentiation rate in vitro of wild-type osteoclast precursors into osteoclasts (J:141179)

Mouse Models of Human Disease
OMIM ID Ref(s)
NOT Paget Disease of Bone 2, Early-Onset; PDB2 602080 J:141179


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory