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Symbol
Name
ID
Irf6
interferon regulatory factor 6
MGI:1859211
Phenotype annotations related to craniofacial
*Aspects of the system are reported to show a normal phenotype.
Darker colors indicate more annotations
Human Phenotypes
Sparse scalp hair
Micrognathia
Fibrous syngnathia
Hypoplasia of the maxilla
Mask-like facies
Lower lip pit
Thin upper lip vermilion
Cleft upper lip
Non-midline cleft of the upper lip
Lip pit
Oral synechia
Bifid uvula
Cleft palate
Abnormal salivary gland morphology
Anodontia
Hypodontia
Dental malocclusion
Choanal atresia
Underdeveloped nasal alae
Short nose
Absent eyebrow
Absent eyelashes
Blepharophimosis
Upslanted palpebral fissure
Ankyloblepharon
Ablepharon
Lower eyelid coloboma
Ectropion
Cicatricial lagophthalmos
Tessier cleft
Disease(s) Associated with IRF6
orofacial cleft 6
popliteal pterygium syndrome
Van der Woude syndrome

Mouse Phenotypes
craniofacial phenotype
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 craniofacial development
abnormal palate development
failure of palatal shelf elevation
palatal shelf fusion with tongue or mandible
abnormal mouth morphology
abnormal oral cavity morphology
cleft secondary palate
cleft palate
glossopalatal ankylosis
round snout
short snout
absent outer ear
Availability Mouse Genotype
Irf6clft1/Irf6clft1
Irf6Gt(OST398253)Lex/Irf6Gt(OST398253)Lex
Irf6tm1Mjd/Irf6tm1Mjd
Irf6tm1Pts/Irf6tm1Pts *
Irf6Gt(OST398253)Lex/Irf6+
Irf6tm1Mjd/Irf6+
Irf6tm1Mjd/Irf6tm1Pts *
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
04/23/2024
MGI 6.23
The Jackson Laboratory