Gli3
Gene Detail

Symbol Name ID

Gli3 GLI-Kruppel family member GLI3 MGI:95729

Synonyms

Bph, brachyphalangy

Feature Type

protein coding gene

Genetic Map

Chromosome 13

5.43 cM, cytoband A2
Detailed Genetic Map ± 1 cM


Mapping data(38)

Sequence Map

Chr13:15463235-15730026 bp, + strand From VEGA annotation of GRCm38   266792 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:139  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Gene Tree: Gli3

Human homologs

Human Homolog		GLI3, GLI family zinc finger 3
NCBI Gene ID		2737
neXtProt AC		NX_P10071
Human Synonyms		ACLS, GCPS, GLI3-190, GLI3FL, PAPA, PAP-A, PAPA1, PAPB, PHS, PPDIV
Human Chr (Location)		7p13; chr7:42000547-42276618 (-)  GRCh37.p10
Disease Associations		(5) Diseases Associated with Human GLI3

Alleles and phenotypes

All alleles(26) : Targeted(11) Gene trapped(3) Transgenic(2) Spontaneous(4) Chemically induced(1) Radiation induced(5)
 

Homozygous mutants die perinatally with gross polydactyly, multiple craniofacial defects, and frequently, exencephaly. Heterozygotes exhibit enlarged interfrontal bone and extra preaxial digits.

 
Human Diseases Modeled Using Mouse Gli3 (3)    Alleles Annotated to Human Diseases(2)    Phenotype Images(3)

Gene Ontology (GO) classifications

All GO classifications: (151 annotations)

Process	anatomical structure development, anatomical structure formation involved in morphogenesis, ...
Component	cell projection, cilium, ...
Function	beta-catenin binding, chromatin binding, ...

This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase

Expression

Literature Summary: (260 records)
Data Summary: Results (663)    Tissues (411)    Images (173)
Theiler Stages: 2, 3, 4, 5, 7, 9, 11, 13, 15, 16, 17, 18, 19, 20, 21, 22, 23, 24, 25, 28

Assay Type	Results
Immunohistochemistry	5
RNA in situ	549
Northern blot	18
Western blot	18
RT-PCR	71
RNase protection	2

cDNA source data(31)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(60) Genomic(4) cDNA(35) Primer pair(10) Other(11)
Microarray probesets(6)

Other database links

VEGA Gene Model	OTTMUSG00000024401 (Evidence)
Ensembl Gene Model	ENSMUSG00000021318 (Evidence)
Entrez Gene	14634 (Evidence)
DFCI	TC1584775, TC1598037
DoTS	DT.101146591, DT.485325, DT.489069, DT.97355264
NIA Mouse Gene Index	U014564
Consensus CDS Project	CCDS36603.1
International Mouse Knockout Project Status	Gli3

Sequences

Length	Strain/Species
genomic	OTTMUSG00000024401	VEGA Gene Model | MGI Sequence Detail	266792	C57BL/6J
transcript	OTTMUST00000059816	VEGA | MGI Sequence Detail	8170	Not Applicable
polypeptide	OTTMUSP00000029127	VEGA | MGI Sequence Detail	1583	Not Applicable

All sequences(46) RefSeq(2) UniProt(5)

Polymorphisms

All PCR and RFLP(5) : PCR(2) RFLP(3) SNPs(1308 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR007087	Zinc finger, C2H2
InterPro	IPR015880	Zinc finger, C2H2-like
InterPro	IPR013087	Zinc finger C2H2-type/integrase DNA-binding domain
Protein Ontology	PR:000008028	transcriptional activator GLI3

References

(Earliest) J:12947 Lyon MF, et al., The overall rates of dominant and recessive lethal and visible mutation induced by spermatogonial X-irradiation of mice. Genet Res. 1964;5:448-467
(Latest) J:194049 Johansson PA, et al., The transcription factor Otx2 regulates choroid plexus development and function. Development. 2013 Mar;140(5):1055-66
All references(462)

Other accession IDs

MGD-MRK-10107, MGD-MRK-1107, MGD-MRK-13222, MGD-MRK-15835, MGD-MRK-1615, MGI:2145311, MGI:2145364