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Symbol
Name
ID
Tfap2a
transcription factor AP-2, alpha
MGI:104671
Phenotype annotations related to craniofacial
Darker colors indicate more annotations
Human Phenotypes
Low posterior hairline
Dolichocephaly
Micrognathia
Malar flattening
Microcephaly
Postauricular pit
Preauricular pit
Supraauricular pit
Facial palsy
Cleft of chin
Dimple chin
Small forehead
Lower lip pit
Cleft upper lip
Cleft palate
Abnormality of the dentition
Broad nasal tip
Depressed nasal bridge
Short nasal septum
Upslanted palpebral fissure
Telecanthus
Nasolacrimal duct obstruction
Disease(s) Associated with TFAP2A
branchiooculofacial syndrome

Mouse Phenotypes
abnormal frontonasal suture morphology
abnormal cranium morphology
abnormal neurocranium morphology
wide frontal bone
small frontal bone
short frontal bone
absent interparietal bone
absent parietal bone
small orbits
malocclusion
abnormal mandible morphology
short mandible
abnormal maxilla morphology
abnormal premaxilla morphology
absent maxilla
short maxilla
abnormal nasal bone morphology
absent nasal bone
broad nasal bone
short nasal bone
abnormal zygomatic bone morphology
small zygomatic bone
acrania
cranioschisis
abnormal middle ear ossicle morphology
abnormal incus morphology
abnormal malleus morphology
abnormal stapes morphology
absent middle ear ossicles
abnormal craniofacial development
abnormal lateral nasal prominence morphology
abnormal maxillary prominence morphology
abnormal medial nasal prominence morphology
abnormal nasal pit morphology
abnormal palatal shelf fusion at midline
abnormal facial morphology
abnormal facial skin morphology
abnormal periorbital skin morphology
abnormal secondary palate morphology
cleft palate
absent mouth
abnormal nasal septum cartilage morphology
absent snout
narrow snout
short snout
facial cleft
midline facial cleft
absent outer ear
Availability Mouse Genotype
Tfap2aMhdador/Tfap2aMhdador
Tfap2atm1.1Hsv/Tfap2atm1.1Hsv
Tfap2atm1Hsv/Tfap2atm1Hsv
Tfap2atm1Jae/Tfap2atm1Jae
Tfap2atm1Will/Tfap2atm1Will
Tfap2aMhdador/Tfap2a+
Tfap2atm1Jae/Tfap2a+
Tfap2atm1Will/Tfap2atm2.1Will
Tfap2atm2Will/Tfap2atm2Will
HhatTg(TFAP2A-cre)1Will/0  (conditional)
Tfap2atm1Hsv/Tfap2atm2Will
H2az2Tg(Wnt1-cre)11Rth/H2az2+  (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