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Phenotypes Associated with This Genotype
Genotype
MGI:5056475
Allelic
Composition
Sqstm1tm1.1Sral/Sqstm1tm1.1Sral
Genetic
Background
involves: 129/Sv * 129P2/OlaHsd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sqstm1tm1.1Sral mutation (0 available); any Sqstm1 mutation (10 available)
phenotype observed in females
phenotype observed in males
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 ID Ref(s)
Paget Disease of Bone 2, Early-Onset; PDB2 602080 J:173755


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
04/19/2016
MGI 6.03
The Jackson Laboratory