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Pax6 Gene Detail
 Symbol
Name
ID
Pax6
paired box gene 6
MGI:97490


Nomenclature History
Synonyms 1500038E17Rik, AEY11, Dey, Dickie's small eye, Gsfaey11, Pax-6
Genetic Map
Chromosome 2
58.0 cM
Detailed Genetic Map ± 1 cM
 
Mapping data( 33)

Sequence Map
Chr2:105509053-105538567 bp, + strand
(From VEGA annotation of NCBI Build 37)
VEGA ContigView | Ensembl ContigView | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser
Mammalian
homology
human; cattle; rat    (Mammalian Orthology)
Comparative Map (Mouse/Human Pax6 ± 2 cM)
Protein SuperFamily: paired box protein PAX
TreeFam: TF320146
Sequences
Representative Sequences Length Strain/Species Flank
genomic OTTMUSG00000015006 VEGA Gene Model | MGI Sequence Detail 29515 C57BL/6J ± Kb
transcript NM_013627 RefSeq | MGI Sequence Detail 2550 C57BL/6
polypeptide P63015 UniProt | EBI | MGI Sequence Detail 422 Not Applicable
For the selected sequences
All sequences(50)
Alleles
and
phenotypes
All alleles(39) : Targeted, knock-out(3) Targeted, other(3) Gene trapped(4) Spontaneous(2) Chemically induced(25) Radiation induced(4)
Null and hypomorphic mutants show a range of phenotypes from viable with small eyes and lens/cornea fusion to microphthalmia and cataract to embryonic or perinatal lethality with anophthalmia and severe craniofacial and forebrain defects.
Associated Human Diseases (7)   Alleles Annotated to Human Diseases (13)   Phenotype Images (8)  
Polymorphisms All PCR and RFLP(2) : PCR(1) RFLP(1) SNPs within 2kb(62 from dbSNP Build 128)  
Gene Ontology
(GO)
classifications
All GO classifications(66)
Process anterior/posterior pattern formation, astrocyte differentiation...
Component intracellular, intracellular part...
Function DNA binding, protein binding...
External Resources: MouseFunc
Expression Literature Summary: (569 records)
Data Summary: Assays (107)    Results (999)    Tissues (437)    Images (367)
Theiler Stages: 2,3,4,5,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,28
  Assay Type Assays   Results
      Western blot 2   5
      RT-PCR 10   62
      RNA in situ 66   764
      Immunohistochemistry 23   102
      Northern blot 4   35
      RNase protection 2   31
cDNA source data(36)
External Resources: Allen Brain Atlas  GENSAT  GEO 
Molecular
reagents
All nucleic(92) Genomic(11) cDNA(45) Primer pair(14) Other(22) Antibodies(10)
Microarray probesets(7)
Other database
links
Ensembl Gene Model ENSMUSG00000027168, ENSMUSG00000074984
DFCI TC1580284, TC1587626, TC1595471, TC1619255, TC1633796, TC1635055, TC1637333, TC1714267, TC1718931
Entrez Gene 18508
VEGA Gene Model OTTMUSG00000015006
International Mouse Knockout Project Status Pax6
Protein
domains
InterPro ID Description
IPR001356 Homeobox
IPR001523 Paired box protein, N-terminal
IPR009057 Homeodomain-like
IPR011991 Winged helix repressor DNA-binding
IPR012287 Homeodomain-related
IPR017970 Homeobox, conserved site
Graphical View of Protein Domain Structure
References
(Earliest) J:12101 Roberts RC, "Small-eyes, a new dominant mutant in the mouse." Genet Res 1967;9():121-122
(Latest) J:153566 Fujimura N et al., "Spatial and temporal regulation of Wnt/beta-catenin signaling is essential for development of the retinal pigment epithelium." Dev Biol 2009 Oct 1;334(1):31-45
All references(755)
Other
accession IDs
MGD-MRK-13149, MGD-MRK-13158, MGD-MRK-14366, MGD-MRK-8831, MGI:2442292, MGI:3529952

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
11/20/2009
MGI_4.31
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