|
Symbol Name ID |
Tfap2a
transcription factor AP-2, alpha MGI:104671 |
| * | Aspects of the system are reported to show a normal phenotype. |
| Darker colors indicate more annotations |
| Human Phenotypes | Dolichocephaly |
Micrognathia |
Malar flattening |
Microcephaly |
Short neck |
Clinodactyly of the 5th finger |
Preaxial hand polydactyly |
Short thumb |
Proximal placement of thumb |
Elbow flexion contracture |
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) |
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| Tfap2atm1Hsv/Tfap2atm2Will H2az2Tg(Wnt1-cre)11Rth/H2az2+ (conditional) |
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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 |
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