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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Sqstm1tm1.1Sral
targeted mutation 1.1, Stuart H Ralston
MGI:5056451
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Sqstm1tm1.1Sral/Sqstm1tm1.1Sral involves: 129/Sv * 129P2/OlaHsd * C57BL/6 MGI:5056475
ht2
Sqstm1tm1.1Sral/Sqstm1+ involves: 129/Sv * 129P2/OlaHsd * C57BL/6 MGI:5056476


Genotype
MGI:5056475
hm1
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 (12 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
DO ID OMIM ID(s) Ref(s)
Paget's disease of bone DOID:5408 OMIM:167250
OMIM:602080
OMIM:606263
J:173755




Genotype
MGI:5056476
ht2
Allelic
Composition
Sqstm1tm1.1Sral/Sqstm1+
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 (12 available)
phenotype observed in females
phenotype observed in males
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
DO ID OMIM ID(s) Ref(s)
Paget's disease of bone DOID:5408 OMIM:167250
OMIM:602080
OMIM:606263
J:173755





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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
03/14/2017
MGI 6.08
The Jackson Laboratory