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Symbol
Name
ID
Otx2
orthodenticle homeobox 2
MGI:97451
Phenotype annotations related to skeleton
Darker colors indicate more annotations
Human Phenotypes
Joint hypermobility
Delayed skeletal maturation
Osteoporosis of vertebrae
Osteopenia
Disease(s) Associated with OTX2
panhypopituitarism
syndromic microphthalmia 5

Mouse Phenotypes
abnormal cranium morphology
abnormal basisphenoid bone morphology
basisphenoid bone foramen
abnormal Meckel's cartilage morphology
small cranium
frontal bone foramen
abnormal alisphenoid bone morphology
absent orbitosphenoid bone
abnormal presphenoid bone morphology
abnormal pterygoid bone morphology
abnormal temporal bone tympanic part morphology
abnormal mandible morphology
absent mandibular coronoid process
absent mandible
micrognathia
abnormal incus morphology
abnormal malleus morphology
abnormal nasal capsule morphology
absent nasal capsule
failure of intramembranous bone ossification
Availability Mouse Genotype
Otx2tm1Sia/Otx2+
Otx2tm1Sia/Otx2tm4Sia
H2az2Tg(Wnt1-cre)11Rth/H2az2+
Tg(CAG-Otx2,-EGFP)1Eno/?  (conditional)
Otx2tm1.1Tlam/Otx2tm2(cre/ERT2)Tlam  (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
04/16/2024
MGI 6.23
The Jackson Laboratory