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Symbol
Name
ID
Sh3bp2
SH3-domain binding protein 2
MGI:1346349
Phenotype annotations related to skeleton
Darker colors indicate more annotations
Human Phenotypes
Jaw swelling
Disease(s) Associated with SH3BP2
cherubism

Mouse Phenotypes
abnormal osteoclast differentiation
abnormal craniofacial bone morphology
abnormal neurocranium morphology
abnormal jaw morphology
alveolar process atrophy
increased osteoclast cell number
abnormal osteoclast physiology
joint inflammation
osteomyelitis
short tibia
abnormal skeleton morphology
abnormal long bone morphology
abnormal bone structure
decreased bone mineral density
increased bone mineral density
decreased trabecular bone volume
increased trabecular bone volume
abnormal compact bone morphology
increased compact bone thickness
increased osteoblast cell number
decreased bone trabecula number
increased bone trabecula number
increased trabecular bone thickness
increased bone mass
abnormal skeleton physiology
abnormal bone ossification
Availability Mouse Genotype
Sh3bp2tm1.1Ics/Sh3bp2tm1.1Ics
Sh3bp2tm1b(KOMP)Wtsi/Sh3bp2tm1b(KOMP)Wtsi
Sh3bp2tm1Bjro/Sh3bp2tm1Bjro
Sh3bp2tm1c(KOMP)Wtsi/Sh3bp2tm1c(KOMP)Wtsi
Sh3bp2tm1Bjro/Sh3bp2+

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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last database update
04/09/2024
MGI 6.23
The Jackson Laboratory