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Symbol
Name
ID
Porcn
porcupine O-acyltransferase
MGI:1890212
Phenotype annotations related to limbs/digits/tail
Darker colors indicate more annotations
Human Phenotypes
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
Lower limb asymmetry
Abnormal palmar dermatoglyphics
Upper limb asymmetry
Disease(s) Associated with PORCN
focal dermal hypoplasia

Mouse Phenotypes
abnormal limb morphology
abnormal autopod morphology
decreased autopod size
abnormal digit morphology
fused phalanges
brachydactyly
oligodactyly
forelimb oligodactyly
syndactyly
absent ulna
short limbs
abnormal tail morphology
abnormal caudal vertebrae morphology
short tail
curly tail
Availability Mouse Genotype
Porcntm1.2Lcm/Porcntm1.2Lcm
Porcntm1Vdv/Porcn+
PorcnGt(CSD256)Byg/Y
Porcntm1Vdv/Y
Porcntm1.1Lcm/Porcn+
Edil3Tg(Sox2-cre)1Amc/Edil3+  (conditional)
Porcntm1.1Lcm/Y
Tg(Prrx1-cre)1Cjt/0  (conditional)
Porcntm1.1Lcm/Y
Tg(Msx2-cre)5Rem/0  (conditional)
Porcntm1.1Vdv/Y
Tg(Prrx1-cre)1Cjt/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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last database update
04/23/2024
MGI 6.23
The Jackson Laboratory