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Pax3 Gene Detail
 Symbol
Name
ID
Pax3
paired box gene 3
MGI:97487


Nomenclature History
Synonyms Pax-3
Genetic Map
Chromosome 1
44.0 cM
Detailed Genetic Map ± 1 cM
 
Mapping data( 43)

Sequence Map
Chr1:78099267-78193711 bp, - strand
(From NCBI annotation of NCBI Build 37)
Ensembl ContigView | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser
Mammalian
homology
human; chimpanzee; cattle; dog, domestic; rat    (Mammalian Orthology)
Comparative Map (Mouse/Human Pax3 ± 2 cM)
Protein SuperFamily: paired box protein PAX
TreeFam: TF351610
Sequences
Representative Sequences Length Strain/Species Flank
genomic 18505 NCBI Gene Model | MGI Sequence Detail 94445 C57BL/6J ± Kb
transcript NM_008781 RefSeq | MGI Sequence Detail 3868 C57BL/6
polypeptide P24610 UniProt | EBI | MGI Sequence Detail 479 Not Applicable
For the selected sequences
All sequences(32)
Alleles
and
phenotypes
All alleles(26) : Targeted, knock-out(1) Targeted, other(13) Spontaneous(5) Chemically induced(2) Radiation induced(6)
Effects on homzygotes for mutations in this gene vary in severity and include embryonic to perinatal death, malformations of neural tube, spinal ganglia, heart, vertebral column, hindbrain and limb musculature. Heterozygotes have white belly spots and variable spotting on the back and extremeties.
Associated Human Diseases (3)   Alleles Annotated to Human Diseases (5)   Phenotype Images (1)  
Polymorphisms All PCR and RFLP(7) : PCR(1) RFLP(6) SNPs within 2kb(370 from dbSNP Build 128)  
Gene Ontology
(GO)
classifications
All GO classifications(33)
Process cell migration, cell proliferation...
Component nucleus, transcription factor complex...
Function chromatin binding, DNA binding...
External Resources: MouseFunc
Expression Literature Summary: (251 records)
Data Summary: Assays (71)    Results (490)    Tissues (182)    Images (186)
Theiler Stages: 11,13,14,15,16,17,18,19,20,21,22,23,25,28
  Assay Type Assays   Results
      RT-PCR 11   47
      RNA in situ 53   412
      Immunohistochemistry 3   15
      Northern blot 3   12
      RNase protection 1   4
cDNA source data(26)
External Resources: Allen Brain Atlas  GENSAT  GEO 
Molecular
reagents
All nucleic(60) Genomic(2) cDNA(37) Primer pair(10) Other(11) Antibodies(3)
Microarray probesets(3)
Other database
links
Ensembl Gene Model ENSMUSG00000004872
DoTS DT.87039229
DFCI TC1583151, TC1616131, TC1653160
NIA Mouse Gene Index U126577
Entrez Gene 18505
International Mouse Knockout Project Status Pax3
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:12957 Russell WL, "Splotch, a new mutation in the house mouse, Mus musculus." Genetics 1947;32():102
(Latest) J:154124 Abou-Khalil R et al., "Autocrine and paracrine angiopoietin 1/Tie-2 signaling promotes muscle satellite cell self-renewal." Cell Stem Cell 2009 Sep 4;5(3):298-309
All references(432)
Other
accession IDs
MGD-MRK-13146, MGD-MRK-13155, MGD-MRK-14511

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
11/20/2009
MGI_4.31
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The Jackson Laboratory