Mouse Genome Informatics
hm1
    Sqstm1tm1.1Sral/Sqstm1tm1.1Sral
involves: 129/Sv * 129P2/OlaHsd * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
skeleton
• at 8 months, 7 of 10 mice exhibit focal osteolytic lesion mainly in the hind limb unlike wild-type mice
• at 12 months, 20 of 21 mice exhibit focal osteolytic lesion mainly in the hind limb unlike wild-type mice
• however, young mice exhibit normal trabecular bone density and structure
• 3 of 20 osteoclasts from bone lesions exhibit nuclear inclusions unlike wild-type cells
• osteoclasts that differentiate from bone marrow macrophage are larger and contained more nuclei than osteoclasts that differentiate from wild-type macrophage
• osteoclast formation from bone marrow macrophages is increased compared to from wild-type bone marrow
• within bone lesions
• within bone lesions
• within bone lesions
• mice exhibit increased bone formation 10-fold within bone lesions compared with wild-type mice
• mice exhibit increased mineral apposition rate and mineralizing surface within bone lesions compared with wild-type mice

immune system
• 3 of 20 osteoclasts from bone lesions exhibit nuclear inclusions unlike wild-type cells
• osteoclasts that differentiate from bone marrow macrophage are larger and contained more nuclei than osteoclasts that differentiate from wild-type macrophage
• osteoclast formation from bone marrow macrophages is increased compared to from wild-type bone marrow
• within bone lesions

hematopoietic system
• 3 of 20 osteoclasts from bone lesions exhibit nuclear inclusions unlike wild-type cells
• osteoclasts that differentiate from bone marrow macrophage are larger and contained more nuclei than osteoclasts that differentiate from wild-type macrophage
• osteoclast formation from bone marrow macrophages is increased compared to from wild-type bone marrow
• within bone lesions

cellular
• osteoclast formation from bone marrow macrophages is increased compared to from wild-type bone marrow

Mouse Models of Human Disease
OMIM IDRef(s)
Paget Disease of Bone; PDB 602080 J:173755


Mouse Genome Informatics
ht2
    Sqstm1tm1.1Sral/Sqstm1+
involves: 129/Sv * 129P2/OlaHsd * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
skeleton
• at 8 months, 1 of 4 mice exhibit focal osteolytic lesion mainly in the hind limb unlike wild-type mice
• at 12 months, 14 of 18 mice exhibit focal osteolytic lesion mainly in the hind limb unlike wild-type mice
• osteoclast formation from bone marrow macrophages is increased compared with wild-type cells
• within bone lesions

immune system
• osteoclast formation from bone marrow macrophages is increased compared with wild-type cells
• within bone lesions

hematopoietic system
• osteoclast formation from bone marrow macrophages is increased compared with wild-type cells
• within bone lesions

cellular
• osteoclast formation from bone marrow macrophages is increased compared with wild-type cells

Mouse Models of Human Disease
OMIM IDRef(s)
Paget Disease of Bone; PDB 602080 J:173755