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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 (35 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
skeleton
abnormal bone structure ( J:173755 )
• 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
abnormal osteoclast morphology ( J:173755 )
• 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
abnormal osteoclast differentiation ( J:173755 )
• osteoclast formation from bone marrow macrophages is increased compared to from wild-type bone marrow
increased osteoclast cell number ( J:173755 )
• within bone lesions
abnormal compact bone morphology ( J:173755 )
• within bone lesions
abnormal trabecular bone morphology ( J:173755 )
• within bone lesions
abnormal bone ossification ( J:173755 )
• mice exhibit increased bone formation 10-fold within bone lesions compared with wild-type mice
abnormal bone mineralization ( J:173755 )
• mice exhibit increased mineral apposition rate and mineralizing surface within bone lesions compared with wild-type mice

immune system
abnormal osteoclast morphology ( J:173755 )
• 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
abnormal osteoclast differentiation ( J:173755 )
• osteoclast formation from bone marrow macrophages is increased compared to from wild-type bone marrow
increased osteoclast cell number ( J:173755 )
• within bone lesions

hematopoietic system
abnormal osteoclast morphology ( J:173755 )
• 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
abnormal osteoclast differentiation ( J:173755 )
• osteoclast formation from bone marrow macrophages is increased compared to from wild-type bone marrow
increased osteoclast cell number ( J:173755 )
• within bone lesions

cellular
abnormal osteoclast differentiation ( J:173755 )
• 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:PS167250
 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 (35 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
skeleton
abnormal bone structure ( J:173755 )
• 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
abnormal osteoclast differentiation ( J:173755 )
• osteoclast formation from bone marrow macrophages is increased compared with wild-type cells
increased osteoclast cell number ( J:173755 )
• within bone lesions

immune system
abnormal osteoclast differentiation ( J:173755 )
• osteoclast formation from bone marrow macrophages is increased compared with wild-type cells
increased osteoclast cell number ( J:173755 )
• within bone lesions

hematopoietic system
abnormal osteoclast differentiation ( J:173755 )
• osteoclast formation from bone marrow macrophages is increased compared with wild-type cells
increased osteoclast cell number ( J:173755 )
• within bone lesions

cellular
abnormal osteoclast differentiation ( J:173755 )
• 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:PS167250
 J:173755




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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Send questions and comments to User Support. 		last database update
10/29/2024
MGI 6.24 		The Jackson Laboratory