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Msx1 Gene Detail
Summary
  • Symbol
    Msx1
  • Name
    msh homeobox 1
  • Synonyms
    Hox7, Hox-7, Hox7.1, msh, muscle-segment homeobox
  • Feature Type
    protein coding gene
  • IDs
    MGI:97168
    NCBI Gene: 17701
  • Gene Overview
    MyGene.info: MSX1
Location & Maps
more
  • Sequence Map
    Chr5:37820485-37824583 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      4099 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 5, 20.21 cM
  • Mapping Data
    28 experiments
  • Sequence Tag
Homology
more
  • Human Ortholog
    MSX1, msh homeobox 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    MSX1, msh homeobox 1
    Orthology source: HGNC, HomoloGene
  • Synonyms
    ECTD3, HOX7, HYD1, STHAG1
  • Links
    NCBI Gene ID: 4487
    neXtProt AC: NX_P28360

  • Chr Location
    4p16.2; chr4:4859665-4863936 (+)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 1836
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 western clawed frog;1 zebrafish
  • HCOP
    human homology predictions: MSX1
  • Gene Tree
Human Diseases
more
  • Diseases
    2 with Msx1 mouse models; 3 with human MSX1 associations

Human Disease Mouse Models
       Orofacial Cleft 5; OFC5   OMIM: 608874 View 1 model
Tooth Agenesis, Selective, 1; STHAG1   OMIM: 106600 View 3 models
       Witkop Syndrome   OMIM: 189500
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    52 phenotypes from 5 alleles in 9 genetic backgrounds
    73 phenotypes from multigenic genotypes
    88 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.
  • All Mutations and Alleles
    14
  • Chemically induced (ENU)
    1
  • Chemically induced (other)
    2
  • Radiation induced
    2
  • Spontaneous
    1
  • Targeted
    8
  • Genomic Mutations
    6 involving Msx1
Mutants affect craniofacial neural crest-derived mesenchyme by controlling cell cycle progression. Homozygous null mutants die at birth with multiple craniofacial defects including cleft palate, reduced mandible and maxilla, and retarded tooth development.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

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

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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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
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000021309 VEGA Gene Model | MGI Sequence Detail 4099 C57BL/6J ±  kb
transcript OTTMUST00000050525 VEGA | MGI Sequence Detail 1935 Not Applicable  
polypeptide OTTMUSP00000023597 VEGA | MGI Sequence Detail 303 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    30 from dbSNP Build 142
  • RFLP
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 130
    Genomic 15
    cDNA 72
    Primer pair 8
    Other 35

    Microarray probesets 4
Other
Accession IDs
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MGD-MRK-10867, MGD-MRK-12570, MGI:2140786, MGI:2140836
References
more
  • Summaries
    All 580
    Developmental Gene Expression 474
    Diseases 4
    Gene Ontology 35
    Phenotypes 88
  • Earliest
    J:14222 Davidson D, et al., Homeobox expression in the developing mouse. Mouse News Lett. 1988;82:102
  • Latest
    J:231654 Sanchez-Ferras O, et al., A direct role for murine Cdx proteins in the trunk neural crest gene regulatory network. Development. 2016 Apr 15;143(8):1363-74

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
07/12/2016
MGI 6.04
The Jackson Laboratory