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Symbol
Name
ID

Ext1
exostosin glycosyltransferase 1
MGI:894663

Phenotype annotations related to limbs/digits/tail

Darker colors indicate more annotations

Human Phenotypes

Bowing of the long bones

Genu valgum

Abnormal lower limb bone morphology

Abnormal femur morphology

Coxa valga

Coxa vara

Abnormal fibula morphology

Abnormal tibia morphology

Abnormality of the tarsal bones

Short lower limbs

Metaphyseal widening

Deformed radius

Madelung-like forearm deformities

Abnormal morphology of ulna

Forearm undergrowth

Deformed forearm bones

Short metacarpal

Femoroacetabular impingement

Talipes valgus

Abnormality of the knee

Limitation of knee mobility

Lower limb asymmetry

Abnormal hand morphology

Abnormal carpal morphology

Limb undergrowth

Disease(s) Associated with EXT1

hereditary multiple exostoses

Mouse Phenotypes		abnormal limb morphology	abnormal forelimb morphology	dislocated radius head	bowed radius	increased diameter of radius	increased diameter of ulna
Availability	Mouse Genotype	abnormal limb morphology	abnormal forelimb morphology	dislocated radius head	bowed radius	increased diameter of radius	increased diameter of ulna
	Ext1^{Gt(LST064)Byg}/Ext1^{Gt(LST064)Byg}
	Ext1^tm1Yama/Ext1^tm1Yama Tg(Col2a1-cre/ERT)KA3Smac/0 (conditional)

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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