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Symbol
Name
ID
Irf6
interferon regulatory factor 6
MGI:1859211
Phenotype annotations related to skeleton
Darker colors indicate more annotations
Human Phenotypes
Micrognathia
Fibrous syngnathia
Hypoplasia of the maxilla
Short neck
Ulnar bowing
Clinodactyly of the 5th finger
Camptodactyly of finger
Short phalanx of finger
Symphalangism affecting the phalanges of the hand
Absent thumb
Short thumb
Postaxial foot polydactyly
Preaxial foot polydactyly
Sandal gap
Toe syndactyly
2-3 toe syndactyly
Oligodactyly
Mesoaxial polydactyly
Syndactyly
Cutaneous finger syndactyly
Finger syndactyly
3-4 finger syndactyly
Short foot
Absent radius
Abnormal metacarpal morphology
Short metacarpal
Short palm
Split hand
Limb undergrowth
Pterygium
Axillary pterygium
Intercrural pterygium
Popliteal pterygium
Flexion contracture
Arthrogryposis multiplex congenita
Joint stiffness
Hypoplastic iliac wing
Abnormal rib morphology
Hypoplastic scapulae
Scoliosis
Disease(s) Associated with IRF6
popliteal pterygium syndrome
syndactyly

Mouse Phenotypes
abnormal craniofacial bone morphology
abnormal cranium morphology
absent presphenoid bone
abnormal jaw morphology
abnormal tooth morphology
taurodontia
abnormal incisor morphology
abnormal incisor color
abnormal molar morphology
abnormal molar crown morphology
abnormal molar cusp morphology
abnormal molar root morphology
decreased molar number
abnormal tooth development
abnormal enamel development
abnormal ameloblast morphology
abnormal enamel mineralization
abnormal enamel morphology
abnormal enamel rod pattern
reduced enamel thickness
supernumerary teeth
abnormal Hertwig epithelial root sheath morphology
abnormal mandibular angle morphology
small mandible
abnormal palatine bone horizontal plate morphology
abnormal phalanx morphology
fused phalanges
abnormal skeleton morphology
decreased length of long bones
split xiphoid process
short sternum
small vertebrae
synostosis
delayed bone ossification
Availability Mouse Genotype
Irf6clft1/Irf6clft1
Irf6Gt(OST398253)Lex/Irf6Gt(OST398253)Lex
Irf6tm1Mjd/Irf6tm1Mjd
Irf6tm1Bcsl/Irf6tm1Bcsl
Pitx2tm4(cre)Jfm/Pitx2+  (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
04/09/2024
MGI 6.23
The Jackson Laboratory