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Symbol
Name
ID
Ezh2
enhancer of zeste 2 polycomb repressive complex 2 subunit
MGI:107940
Phenotype annotations related to limbs/digits/tail
Darker colors indicate more annotations
Human Phenotypes
Broad thumb
Prominent fingertip pads
Radial deviation of finger
Toe clinodactyly
Overlapping toe
Clinodactyly
Abnormal femoral metaphysis morphology
Wide distal femoral metaphysis
Flared femoral metaphysis
Coxa valga
Short fourth metatarsal
Metatarsus adductus
Abnormal tibial metaphysis morphology
Calcaneovalgus deformity
Abnormal metaphysis morphology
Flared humeral metaphysis
Pes cavus
Talipes equinovarus
Limited knee extension
Large hands
Single transverse palmar crease
Joint contracture of the hand
Limited elbow extension
Disease(s) Associated with EZH2
osteosarcoma
Weaver syndrome

Mouse Phenotypes
increased femur compact bone thickness
increased internal diameter of femur
Availability Mouse Genotype
Ezh2em1Jiaf/Ezh2+

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
04/23/2024
MGI 6.23
The Jackson Laboratory