Symbol Name ID |
Sall4
spalt like transcription factor 4 MGI:2139360 |
* | Aspects of the system are reported to show a normal phenotype. |
Darker colors indicate more annotations |
Human Phenotypes | Limited interphalangeal movement |
Short 1st metacarpal |
Broad thumb |
Partial duplication of thumb phalanx |
Preaxial hand polydactyly |
Triphalangeal thumb |
Aplasia/Hypoplasia of the thumb |
Absent thumb |
Short thumb |
Finger clinodactyly |
Sandal gap |
Preaxial polydactyly |
Short digit |
Brachydactyly |
Syndactyly |
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 |
Abnormal metacarpal morphology |
Aplasia of metacarpal bones |
Abnormality of the humerus |
Short humerus |
Carpal bone hypoplasia |
Upper limb undergrowth |
Split hand |
Pes planus |
Talipes equinovarus |
Small thenar eminence |
Hypoplasia of deltoid muscle |
Aplasia of the pectoralis major muscle |
Pectoralis hypoplasia |
Upper limb muscle hypoplasia |
Abnormal carpal morphology |
Carpal synostosis |
Synostosis of carpal bones |
Radial deviation of the hand |
Limited elbow movement |
Limited elbow extension |
Limited wrist movement |
Phocomelia |
Disease(s) Associated with SALL4 | |||||||||||||||||||||||||||||||||||||||||||||
Duane retraction syndrome | |||||||||||||||||||||||||||||||||||||||||||||
Duane-radial ray syndrome | |||||||||||||||||||||||||||||||||||||||||||||
Holt-Oram syndrome | |||||||||||||||||||||||||||||||||||||||||||||
IVIC syndrome |
Mouse Phenotypes | limbs/digits/tail phenotype |
abnormal hindlimb bud morphology |
abnormal carpal bone morphology |
absent triquetrum |
abnormal digit morphology |
abnormal phalanx morphology |
elongated metacarpal bones |
kinked tail |
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Availability | Mouse Genotype | ||||||||
Sall4Gt(XE027)Byg/Sall4+ | |||||||||
Sall4tm1Brd/Sall4+ | |||||||||
Sall4tm1Ryn/Sall4+ | * | ||||||||
Sall4tm2Ryn/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 04/16/2024 MGI 6.23 |
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