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Symbol
Name
ID

Porcn
porcupine O-acyltransferase
MGI:1890212

Phenotype annotations related to skeleton

Darker colors indicate more annotations

Human Phenotypes

Microcephaly

Abnormal dental enamel morphology

Enamel hypoplasia

Postaxial hand polydactyly

Camptodactyly of finger

Short phalanx of finger

Hand polydactyly

Finger aplasia

Short finger

Foot oligodactyly

Foot polydactyly

Toe syndactyly

Brachydactyly

Finger syndactyly

3-4 finger syndactyly

Short metatarsal

Coarse metaphyseal trabecularization

Osteopathia striata

Short 4th metacarpal

Short metacarpal

Split foot

Split hand

Congenital hip dislocation

Joint hypermobility

Abnormal epiphysis morphology

Hypoplastic pelvis

Midclavicular aplasia

Short clavicles

Midclavicular hypoplasia

Short ribs

Scoliosis

Giant cell tumor of bone

Disease(s) Associated with PORCN

focal dermal hypoplasia

Mouse Phenotypes		abnormal tooth morphology	fused phalanges	absent ulna	abnormal caudal vertebrae morphology	decreased length of long bones	sternum hypoplasia
Availability	Mouse Genotype	abnormal tooth morphology	fused phalanges	absent ulna	abnormal caudal vertebrae morphology	decreased length of long bones	sternum hypoplasia
	Porcn^tm1Vdv/Porcn⁺
	Porcn^{Gt(CSD256)Byg}/Y
	Porcn^tm1Vdv/Y
	Porcn^tm1.1Lcm/Porcn⁺ Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺ (conditional)
	Porcn^tm1.1Vdv/Y Tg(Prrx1-cre)1Cjt/0 (conditional)
	Porcn^tm1.1Vdv/Y Tg(KRT14-cre)1Efu/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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