Phenotypes Associated with This Genotype

Genotype
MGI:5056476

• 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