|
Symbol Name ID |
Tbx5
T-box 5 MGI:102541 |
| Darker colors indicate more annotations |
| Human Phenotypes | Dolichocephaly |
Micrognathia |
Radial bowing |
Ulnar bowing |
Short middle phalanx of the 2nd finger |
Aplasia of the 2nd finger |
Aplasia of the 3rd finger |
Short middle phalanx of the 5th finger |
Clinodactyly of the 5th finger |
Aplasia of the 1st metacarpal |
Short 1st metacarpal |
Broad thumb |
Partial duplication of thumb phalanx |
Triphalangeal thumb |
Absent thumb |
Short thumb |
Distally placed thumb |
Proximal placement of thumb |
Ulnar deviation of thumb |
Hand monodactyly |
Finger clinodactyly |
Aplasia of the distal phalanx of the 4th toe |
Duplication of the distal phalanx of the 3rd toe |
Short digit |
Syndactyly |
Finger syndactyly |
1-2 finger syndactyly |
3-4 finger syndactyly |
Aplasia/Hypoplasia of the radius |
Absent radius |
Hypoplasia of the radius |
Radioulnar synostosis |
Aplasia of the ulna |
Hypoplasia of the ulna |
Short forearm |
Abnormal metacarpal morphology |
Abnormality of the humerus |
Short humerus |
Upper limb phocomelia |
Split hand |
Abnormal carpal morphology |
Elbow dislocation |
Limited elbow extension |
Limited pronation/supination of forearm |
Phocomelia |
Sacral dimple |
Joint stiffness |
Cervical C2/C3 vertebral fusion |
Down-sloping shoulders |
Abnormal clavicle morphology |
Short clavicles |
Abnormal rib morphology |
11 pairs of ribs |
Hypoplastic scapulae |
Sprengel anomaly |
Pectus excavatum |
Thoracic scoliosis |
Narrow chest |
Kyphosis |
Scoliosis |
| Disease(s) Associated with TBX5 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holt-Oram syndrome |
| Mouse Phenotypes | abnormal carpal bone morphology |
abnormal phalanx morphology |
abnormal tendon morphology |
absent clavicle |
absent scapula |
absent sternum |
abnormal thoracic cage morphology |
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| Availability | Mouse Genotype | |||||||
| Tbx5tm1.1Jse/Tbx5+ | ||||||||
| Tbx5tm1Jse/Tbx5tm1Jse Tg(Prrx1-cre)1Cjt/0 (conditional) |
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| Tbx5tm1Jse/Tbx5tm1Jse Tg(Prrx1-cre/ERT2)1Mlgn/0 Tg(Scx-GFP)1Stzr/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 04/30/2024 MGI 6.23 |
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