|
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 | 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 |
Genu valgum |
Partial duplication of the distal phalanx of the 2nd finger |
Partial duplication of the distal phalanx of the 3rd finger |
Clinodactyly of the 5th finger |
Postaxial hand polydactyly |
Short distal phalanx of finger |
Shortening of all distal phalanges of the fingers |
Broad distal phalanx of the thumb |
Cone-shaped epiphyses of the phalanges of the hand |
Shortening of all middle phalanges of the fingers |
Broad thumb |
Preaxial hand polydactyly |
Triphalangeal thumb |
Long fingers |
Arachnodactyly |
Duplication of the distal phalanx of the hallux |
Broad hallux |
Broad distal hallux |
Hallux valgus |
Cone-shaped epiphyses of the toes |
Toe syndactyly |
2-5 toe syndactyly |
Brachydactyly |
Syndactyly |
Cutaneous syndactyly |
Cutaneous finger syndactyly |
2-5 finger cutaneous syndactyly |
Finger syndactyly |
2-4 finger syndactyly |
Absent first metatarsal |
Metatarsus adductus |
Metaphyseal widening |
Dislocated radial head |
Humeroradial synostosis |
Radioulnar synostosis |
Proximal radio-ulnar synostosis |
Genu recurvatum |
Carpal bone malsegmentation |
Synostosis of carpal bones |
Joint contracture of the hand |
Limited elbow movement |
Rhizomelic arm shortening |
Prominent crus of helix |
Camptodactyly |
Joint hypermobility |
Cervical C5/C6 vertebrae fusion |
Delayed epiphyseal ossification |
Abnormal pelvic girdle bone morphology |
Short clavicles |
Lateral clavicle hook |
Supernumerary ribs |
Thin ribs |
Pectus carinatum |
Pectus excavatum |
Narrow chest |
Hyperlordosis |
Scoliosis |
Abnormal form of the vertebral bodies |
C1-C2 vertebral abnormality |
Osteopenia |
| Disease(s) Associated with TWIST1 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| acrocephalosyndactylia | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| craniosynostosis | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Saethre-Chotzen syndrome | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sweeney-Cox syndrome |
| Mouse Phenotypes | skeleton phenotype |
abnormal osteoblast differentiation |
abnormal cranium morphology |
enlarged interparietal bone |
short temporal bone squamous part |
temporal bone hypoplasia |
abnormal zygomatic bone morphology |
abnormal limb bone morphology |
abnormal clavicle morphology |
abnormal long bone epiphyseal plate morphology |
abnormal long bone epiphyseal plate proliferative zone |
increased width of hypertrophic chondrocyte zone |
abnormal pelvic girdle bone morphology |
abnormal rib morphology |
abnormal vertebrae morphology |
abnormal vertebral arch morphology |
decreased trabecular bone volume |
decreased bone trabecula number |
decreased trabecular bone thickness |
abnormal ossification involved in bone maturation |
abnormal bone ossification |
premature endochondral bone ossification |
premature cranial suture closure |
premature coronal suture closure |
premature lambdoid suture closure |
|
| Availability | Mouse Genotype | |||||||||||||||||||||||||
| Twist1Ska10/Twist1Ska10 | ||||||||||||||||||||||||||
| Twist1tm2Bhr/Twist1tm2Bhr | * | |||||||||||||||||||||||||
| Twist1em1(IMPC)Rbrc/Twist1+ | ||||||||||||||||||||||||||
| Twist1Ska10/Twist1+ | ||||||||||||||||||||||||||
| Twist1tm1Bhr/Twist1+ | ||||||||||||||||||||||||||
| Twist1tm1Bhr/Twist1tm2Bhr | ||||||||||||||||||||||||||
| Tg(CAG-cat,-Twist1)1Dbsp/0 Tg(Col2a1-cre)1Bhr/0 (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 04/16/2024 MGI 6.23 |
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