Gli3 - SNV Details



 Human Rare Diseases 
Polysyndactyly, unilateral
Postaxial polydactyly type B, bilateral
Greig cephalopolysyndactyly syndrome
Postaxial polydactyly type B, unilateral
Acrocallosal syndrome
Postaxial polydactyly type A, bilateral
Postaxial polydactyly type A, unilateral
Polysyndactyly, bilateral
Pallister-Hall syndrome

 Gene Information 
Gene Name Gli3
Old Gene Names for Gli3 Ai854843 , Au023367
Gene Description GLI-Kruppel family member GLI3 [Source:MGI Symbol;Acc:MGI:95729]
MGI phenotype Homozygous mutants die perinatally with gross polydactyly, multiple craniofacial defects, and frequently, exencephaly. Heterozygotes exhibit enlarged interfrontal bone and extra preaxial digits.
Uniprot Name
CCDS Name
Gene GO
inner ear development; sequence-specific DNA binding; positive regulation of transcription
DNA-templated; T cell differentiation in thymus; limb morphogenesis; branching morphogenesis of an epithelial tube; artery development; negative regulation of smoothened signaling pathway; cilium; chromatin binding; sagittal suture morphogenesis; odontogenesis of dentin-containing tooth; positive regulation of chondrocyte differentiation; lateral semicircular canal development; regulation of transcription
DNA-templated; neuron fate commitment; mammary gland specification; anterior semicircular canal development; negative regulation of neuron differentiation; anterior/posterior pattern specification; frontal suture morphogenesis; negative regulation of transcription
DNA-templated; mammary gland development; positive regulation of transcription from RNA polymerase II promoter; beta-catenin binding; cytoplasm; negative regulation of canonical Wnt signaling pathway; neural tube development; metal ion binding; negative regulation of apoptotic process; embryonic digit morphogenesis; cell differentiation involved in kidney development; smoothened signaling pathway involved in ventral spinal cord interneuron specification; forebrain dorsal/ventral pattern formation; limb development; negative thymic T cell selection; melanocyte differentiation; negative regulation of cell differentiation; dorsal/ventral pattern formation; camera-type eye morphogenesis; embryonic digestive tract development; proximal/distal pattern formation; RNA polymerase II core promoter proximal region sequence-specific DNA binding; wound healing; protein processing; sequence-specific DNA binding transcription factor activity; response to estrogen; regulation of gene expression; tube development; lambdoid suture morphogenesis; protein binding; transcriptional repressor complex; negative regulation of cell proliferation; embryonic skeletal system morphogenesis; regulation of cell differentiation; nuclear speck; histone acetyltransferase binding; kidney development; pallium development; anatomical structure development; palate development; nucleus; positive regulation of neuroblast proliferation; lateral ganglionic eminence cell proliferation; positive regulation of protein import into nucleus; in utero embryonic development; embryonic morphogenesis; regulation of cell proliferation; branching involved in ureteric bud morphogenesis; subpallium development; cytosol; oligodendrocyte differentiation; embryonic limb morphogenesis; smoothened signaling pathway involved in spinal cord motor neuron cell fate specification; telencephalon development; negative regulation of alpha-beta T cell differentiation; lung development; histone deacetylase binding; smoothened signaling pathway involved in dorsal/ventral neural tube patterning; axon guidance; hippocampus development; negative regulation of transcription from RNA polymerase II promoter; forebrain radial glial cell differentiation; primary cilium; pattern specification process; anatomical structure formation involved in morphogenesis; mediator complex; cerebral cortex radial glia guided migration; hindgut morphogenesis; metanephros development; forebrain development; positive regulation of alpha-beta T cell differentiation; thymocyte apoptotic process; central nervous system development; nucleolus; optic nerve morphogenesis; regulation of apoptotic process; heart development; camera-type eye development; spinal cord dorsal/ventral patterning; smoothened signaling pathway; transcription
DNA-templated; developmental growth; brain development; embryonic digestive tract morphogenesis; positive regulation of osteoblast differentiation; tongue development; spinal cord motor neuron differentiation
Homolog in other species GLI3
Omim http://omim.org/entry/165240
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.DPSM.TH, T.8EFF.SP.OT1.D6.VSVOVA, T.8MEM.LN,TGD.SP,T.4FP3+25+.SP,T.4NVE.PP)
Gnf Expression
LOW/MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Splice
Ensembl ID ENSMUSG00000021318
Chromosome 13
Coordinate 15,613,886     (Assembly: GRCm38)    
Ref Base T
Var Base C
Zygosity Heterozygous
Read Depth 98
Allele Frequency
T:R0.55
C:V0.45
Amino Acid Change Disrupted splicing
Splice Position 2
Sample ID IGL02744
Median Base Quality 40
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 35 Other Mutations

 Predictions 

 Availability Details 
Availability Cryopreserved