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Symbol
Name
ID
Tfap2a
transcription factor AP-2, alpha
MGI:104671
Phenotype annotations related to skeleton
*Aspects of the system are reported to show a normal phenotype.
Darker colors indicate more annotations
Human Phenotypes
Elbow flexion contracture
Micrognathia
Malar flattening
Microcephaly
Dolichocephaly
Short neck
Clinodactyly of the 5th finger
Preaxial hand polydactyly
Short thumb
Proximal placement of thumb
Fusion of middle ear ossicles
Hyperlordosis
Kyphosis
Disease(s) Associated with TFAP2A
branchiooculofacial syndrome

Mouse Phenotypes
skeleton phenotype
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 nasal septum cartilage morphology
absent radius
absent clavicle
absent sternum
abnormal axial skeleton morphology
abnormal thoracic cage morphology
splayed ribs
scoliosis
Availability Mouse Genotype
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/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
11/12/2019
MGI 6.14
The Jackson Laboratory