Phenotypes associated with this allele

• Allele Symbol: Sqstm1⁺
• Allele Name: wild type
• Allele ID: MGI:2434010
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Sqstm1^tm1.1Sral/Sqstm1^+	involves: 129/Sv * 129P2/OlaHsd * C57BL/6	MGI:5056476
ht2	Sqstm1^em1Kmts/Sqstm1^+	involves: C57BL/6N	MGI:7570173

Genotype
MGI:5056476

ht1

• Allelic Composition: Sqstm1^tm1.1Sral/Sqstm1⁺
• Genetic Background: involves: 129/Sv * 129P2/OlaHsd * C57BL/6

• ♀: 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

Genotype
MGI:7570173

ht2

• Allelic Composition: Sqstm1^em1Kmts/Sqstm1⁺
• Genetic Background: involves: C57BL/6N

digestive/alimentary system

esophagus hyperplasia ( J:342766 )

• thicker stratum corneum

abnormal forestomach morphology ( J:342766 )

• thickened wall (thicker stratum corneum)

growth/size/body

esophagus hyperplasia ( J:342766 )

• thicker stratum corneum

postnatal growth retardation ( J:342766 )

• at age P12 and P15

enlarged liver ( J:342766 )

• at age P12 and P15

homeostasis/metabolism

increased circulating creatinine level ( J:342766 )

increased blood urea nitrogen level ( J:342766 )

hypoglycemia ( J:342766 )

increased circulating cholesterol level ( J:342766 )

increased circulating aspartate transaminase level ( J:342766 )

integument

hyperkeratosis ( J:342766 )

• in esophagus and forestomach

liver/biliary system

enlarged liver ( J:342766 )

• at age P12 and P15