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Pax3 Gene Detail
Summary
  • Symbol
    Pax3
  • Name
    paired box 3
  • Synonyms
    Pax-3, Splchl2
  • Feature Type
    protein coding gene
  • IDs
    MGI:97487
    NCBI Gene: 18505
  • Alliance
    genome feature page
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr1:78077904-78173771 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 1, 39.79 cM
  • Mapping Data
    44 experiments
Strain
Comparison
more
  • SNPs within 2kb
    2011 from dbSNP Build 142
  • Strain Annotations
    19
  • PCR
    1
  • RFLP
    6
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_97487
 protein coding gene Chr1:78077904-78173773 (-)
129S1/SvImJ ENSMUSG00200031939
 protein coding gene Chr1:75766407-75862341 (-)
A/J ENSMUSG00195008697
 protein coding gene Chr1:75175748-75271635 (-)
AKR/J ENSMUSG00220010336
 protein coding gene Chr1:75327543-75423473 (-)
BALB/cJ ENSMUSG00180015547
 protein coding gene Chr1:75438364-75534251 (-)
C3H/HeJ ENSMUSG00175017708
 protein coding gene Chr1:75580665-75676548 (-)
C57BL/6NJ ENSMUSG00215024560
 protein coding gene Chr1:75478010-75573898 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0014308
 protein coding gene Chr1:71492380-71588766 (-)
CAST/EiJ ENSTCUG00005026085
 protein coding gene Chr1:75184583-75281101 (-)
CBA/J ENSMUSG00210035533
 protein coding gene Chr1:75296881-75392843 (-)
DBA/2J ENSMUSG00185028491
 protein coding gene Chr1:76352671-76448558 (-)
FVB/NJ ENSMUSG00205019971
 protein coding gene Chr1:74897134-74993208 (-)
JF1/MsJ ENSUMUG00000005664
 protein coding gene Chr1:75234057-75330145 (-)
LP/J ENSMUSG00230008566
 protein coding gene Chr1:76342016-76437942 (-)
NOD/ShiLtJ ENSMUSG00190030778
 protein coding gene Chr1:75500449-75596303 (-)
NZO/HlLtJ ENSMUSG00225040012
 protein coding gene Chr1:79561083-79657085 (-)
PWK/PhJ ENSLUMG00010013463
 protein coding gene Chr1:74834287-74930184 (-)
SPRET/EiJ ENSMSPG00010016558
 protein coding gene Chr1:76963755-77067323 (-)
WSB/EiJ ENSIUOG00005012830
 protein coding gene Chr1:75098800-75194796 (-)



Homology
more
  • Human Ortholog
    PAX3, paired box 3
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PAX3, paired box 3
  • Synonyms
    CDHS, HUP2, PAX-3, WS1, WS3
  • Links
    NCBI Gene ID: 5077
    UniProt: P23760

  • Chr Location
    2q36.1; chr2:222199887-222298998 (-)  GRCh38
Human Diseases
more
  • Diseases
    2 with Pax3 mouse models; 5 with human PAX3 associations

Human Disease Mouse Models
      
IDs
 View 6 models
      
IDs
 View 1 model
      
IDs
 View 4 models
IDs
IDs
IDs
 View 5 "NOT" models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    5 with disease annotations
  • References
    7 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    131 phenotypes from 28 alleles in 41 genetic backgrounds
    203 phenotypes from multigenic genotypes
    5 images
    385 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Effects on homozygotes 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.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
    73
  • GO References
    26
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    2314
  • Tissues
    467
  • cDNA Data
    46
  • Literature Summary
    535
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000004872 Ensembl Gene Model | MGI Sequence Detail 95868 C57BL/6J ±  kb
    transcript ENSMUST00000004994 Ensembl | MGI Sequence Detail 3078 Not Applicable  
    polypeptide ENSMUSP00000004994 Ensembl | MGI Sequence Detail 484 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 160
      Genomic 2
      cDNA 62
      Primer pair 30
      Other 66
      Antibodies 31

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-13146, MGD-MRK-13155, MGD-MRK-14511, MGI:4460116
    References
    more
    • Summaries
      All 984
      Developmental Gene Expression 535
      Diseases 7
      Gene Ontology 26
      Phenotypes 385
    • Earliest
      J:12957 Russell WL, Splotch, a new mutation in the house mouse, Mus musculus. Genetics. 1947;32:102 (Abstr.)
    • Latest
      J:388885 Lin CY, et al., A 3D amphioxus brain atlas illuminates the blueprint of the ancestral chordate brain and highlights unique vertebrate innovations. Sci Adv. 2026 Jul 3;12(27):eaee5076
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    09/08/2026
    MGI 6.24     		The Jackson Laboratory