|
Symbol Name ID |
Twist1
twist basic helix-loop-helix transcription factor 1 MGI:98872 |
| * | Aspects of the system are reported to show a normal phenotype. |
| Darker colors indicate more annotations |
| Human Phenotypes | Widow's peak |
Low anterior hairline |
Abnormal skull morphology |
Frontal bossing |
Flat occiput |
Prominent occiput |
Parietal foramina |
Biparietal narrowing |
Brachycephaly |
Acrobrachycephaly |
Brachyturricephaly |
Craniosynostosis |
Coronal craniosynostosis |
Bicoronal synostosis |
Unicoronal synostosis |
Left unicoronal synostosis |
Right unicoronal synostosis |
Lambdoidal craniosynostosis |
Pansynostosis |
Sagittal craniosynostosis |
Dolichocephaly |
Scaphocephaly |
Plagiocephaly |
Skull asymmetry |
Trigonocephaly |
Turricephaly |
Oxycephaly |
Micrognathia |
Mandibular prognathia |
Retrognathia |
Hypoplasia of the maxilla |
Malar flattening |
Shallow orbits |
Posterior fossa cyst |
Microcephaly |
Macrocephaly |
Metopic synostosis |
Prominent metopic ridge |
Delayed cranial suture closure |
Wormian bones |
Wide anterior fontanel |
Large fontanelles |
Facial asymmetry |
Flat face |
Midface retrusion |
Cleft of chin |
Broad forehead |
Flat forehead |
High forehead |
Prominent forehead |
Short philtrum |
Bifid uvula |
Cleft soft palate |
Velopharyngeal insufficiency |
Cleft palate |
Median cleft palate |
High palate |
Narrow palate |
Narrow mouth |
Supernumerary tooth |
Delayed eruption of teeth |
Dental malocclusion |
Open bite |
Choanal atresia |
Choanal stenosis |
Low hanging columella |
Short columella |
Anteverted nares |
Underdeveloped nasal alae |
Convex nasal ridge |
Broad nasal tip |
Depressed nasal bridge |
Prominent nasal bridge |
Wide nasal bridge |
Long nose |
Narrow nose |
Downslanted palpebral fissures |
Upper eyelid coloboma |
Epicanthus |
Telecanthus |
Abnormal nasolacrimal system morphology |
Blepharospasm |
| Disease(s) Associated with TWIST1 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| acrocephalosyndactylia | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| craniosynostosis | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Saethre-Chotzen syndrome | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sweeney-Cox syndrome |
| Mouse Phenotypes | craniofacial phenotype |
abnormal cranium morphology |
enlarged interparietal bone |
short temporal bone squamous part |
temporal bone hypoplasia |
abnormal zygomatic bone morphology |
cleft palate |
|
| Availability | Mouse Genotype | |||||||
| Twist1em1(IMPC)Rbrc/Twist1+ | ||||||||
| Twist1Pas/Twist1+ | ||||||||
| Twist1tm1Bhr/Twist1+ | * | |||||||
| Twist1tm1Bhr/Twist1tm2Bhr | ||||||||
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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