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Col3a1 Gene Detail
Summary
  • Symbol
    Col3a1
  • Name
    collagen, type III, alpha 1
  • Synonyms
    Col3a-1, Tsk2, Tsk-2
  • Feature Type
    protein coding gene
  • IDs
    MGI:88453
    NCBI Gene: 12825
Location & Maps
more
  • Sequence Map
    Chr1:45311538-45349706 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      38169 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 1, 23.67 cM
  • Mapping Data
    22 experiments
Homology
more
  • Human Ortholog
    COL3A1, collagen type III alpha 1 chain
  • Vertebrate Orthologs
    7
  • Human Ortholog
    COL3A1, collagen type III alpha 1 chain
    Orthology source: HGNC, HomoloGene
  • Synonyms
    EDS4A
  • Links
    NCBI Gene ID: 1281
    neXtProt AC: NX_P02461

  • Chr Location
    2q31; chr2:188974373-189012746 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    2 with Col3a1 mouse models; 2 with human COL3A1 associations

Human Disease Mouse Models
       Ehlers-Danlos Syndrome, Type IV, Autosomal Dominant   OMIM: 130050 View 2 models
       Scleroderma, Familial Progressive   OMIM: 181750 View 1 model
       Ehlers-Danlos Syndrome, Hypermobility Type   OMIM: 130020
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    27 phenotypes from 3 alleles in 5 genetic backgrounds
    3 images
    18 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
    6
  • Chemically induced (ENU)
    1
  • Chemically induced (other)
    1
  • Spontaneous
    1
  • Targeted
    3
  • Genomic Mutations
    1 involving Col3a1
  • Incidental Mutations
Most homozygous mutants die within 48 hours after birth. Surviving mutants have reduced body size, skin lesions, enlarged intestines, and die by 6 months of age from ruptured blood vessels. Occasionally intestinal rupture also results in early death. Heterozygotes exhibit tight skin.
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 OTTMUSG00000021335 VEGA Gene Model | MGI Sequence Detail 38169 C57BL/6J ±  kb
transcript OTTMUST00000050577 VEGA | MGI Sequence Detail 5564 Not Applicable  
polypeptide OTTMUSP00000023637 VEGA | MGI Sequence Detail 1464 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    259 from dbSNP Build 142
  • RFLP
Protein
Information
less
Molecular
Reagents
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  • All nucleic 1148
    Genomic 6
    cDNA 1138
    Primer pair 3
    Other 1

    Microarray probesets 3
Other
Accession IDs
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MGD-MRK-15277, MGD-MRK-15278, MGD-MRK-2064, MGD-MRK-2065, MGI:2138608, MGI:98851
References
more
  • Summaries
    All 130
    Developmental Gene Expression 64
    Diseases 3
    Gene Ontology 16
    Phenotypes 18
  • Earliest
    J:20241 Liau G, et al., Coordinate regulation of the levels of type III and type I collagen mRNA in most but not all mouse fibroblasts. J Biol Chem. 1985 Jan 10;260(1):531-6
  • Latest
    J:224431 Besschetnova TY, et al., Regulatory mechanisms of anthrax toxin receptor 1-dependent vascular and connective tissue homeostasis. Matrix Biol. 2015 Mar;42:56-73

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
08/17/2016
MGI 6.05
The Jackson Laboratory