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Symbol Name ID |
Sall4
spalt like transcription factor 4 MGI:2139360 |
| Darker colors indicate more annotations |
| Human Phenotypes | Frontal bossing |
Dolichocephaly |
Plagiocephaly |
Micrognathia |
Microcephaly |
Short neck |
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 |
Limited interphalangeal movement |
Aplasia of the 1st metacarpal |
Short 1st metacarpal |
Broad thumb |
Partial duplication of thumb phalanx |
Preaxial hand polydactyly |
Triphalangeal thumb |
Aplasia/Hypoplasia of the 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 |
Sandal gap |
Preaxial polydactyly |
Short digit |
Brachydactyly |
Syndactyly |
Finger syndactyly |
1-2 finger syndactyly |
3-4 finger syndactyly |
Short femur |
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 |
Aplasia of metacarpal bones |
Abnormality of the humerus |
Short humerus |
Carpal bone hypoplasia |
Upper limb phocomelia |
Upper limb undergrowth |
Split hand |
Abnormal carpal morphology |
Carpal synostosis |
Synostosis of carpal bones |
Elbow dislocation |
Limited elbow movement |
Limited elbow extension |
Limited pronation/supination of forearm |
Limited wrist movement |
Phocomelia |
Sacral dimple |
Camptodactyly |
Joint stiffness |
Abnormal vertebral segmentation and fusion |
Fused cervical vertebrae |
Cervical C2/C3 vertebral fusion |
Down-sloping shoulders |
Shoulder dislocation |
Abnormal clavicle morphology |
Aplastic clavicle |
Short clavicles |
Abnormal rib morphology |
11 pairs of ribs |
Hypoplastic scapulae |
Sprengel anomaly |
Pectus excavatum |
Thoracic scoliosis |
Narrow chest |
Kyphosis |
Scoliosis |
Abnormal form of the vertebral bodies |
| Disease(s) Associated with SALL4 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Duane retraction syndrome | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Duane-radial ray syndrome | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holt-Oram syndrome | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| IVIC syndrome |
| Mouse Phenotypes | abnormal craniofacial bone morphology |
abnormal nasal bone morphology |
abnormal carpal bone morphology |
absent triquetrum |
abnormal phalanx morphology |
elongated metacarpal bones |
|
| Availability | Mouse Genotype | ||||||
| Sall4Gt(XE027)Byg/Sall4+ | |||||||
| Sall4tm1Brd/Sall4+ | |||||||
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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