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Col10a1 Gene Detail
Summary
  • Symbol
    Col10a1
  • Name
    collagen, type X, alpha 1
  • Synonyms
    Col10, Col10a-1
  • Feature Type
    protein coding gene
  • IDs
    MGI:88445
    NCBI Gene: 12813
Location & Maps
more
  • Sequence Map
    Chr10:34389981-34397085 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      7105 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 10, 18.85 cM, cytoband B1-B3
  • Mapping Data
    8 experiments
Homology
more
  • Human Ortholog
    COL10A1, collagen type X alpha 1 chain
  • Vertebrate Orthologs
    9
  • Human Ortholog
    COL10A1, collagen type X alpha 1 chain
    Orthology source: HomoloGene
  • Links
    NCBI Gene ID: 1300
    neXtProt AC: NX_Q03692

  • Chr Location
    6q21-q22; chr6:116118909-116218169 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Col10a1 mouse models; 1 with human COL10A1 associations

Human Disease Mouse Models
       Metaphyseal Chondrodysplasia, Schmid Type; MCDS   OMIM: 156500 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    53 phenotypes from 3 alleles in 4 genetic backgrounds
    8 phenotypes from multigenic genotypes
    2 images
    26 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
    11
  • Chemically induced (other)
    1
  • Radiation induced
    1
  • Targeted
    9
  • Genomic Mutations
    2 involving Col10a1
  • Incidental Mutations
Homozygotes for targeted null mutations may exhibit abnormal trabecular bone, thinner growth plate resting zone and articular cartilage, and altered bone content. Mice homozygous for another knock-out allele exhibit altered B and T cell populations and TH1/TH2responses.
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
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000022505 VEGA Gene Model | MGI Sequence Detail 7105 C57BL/6J ±  kb
transcript OTTMUST00000053879 VEGA | MGI Sequence Detail 3130 Not Applicable  
polypeptide OTTMUSP00000025645 VEGA | MGI Sequence Detail 680 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    40 from dbSNP Build 142
  • RFLP
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 70
    Genomic 19
    cDNA 27
    Primer pair 7
    Other 17

    Microarray probesets 3
Other
Accession IDs
less
MGD-MRK-2051, MGD-MRK-2052
References
more
  • Summaries
    All 415
    Developmental Gene Expression 367
    Diseases 1
    Gene Ontology 6
    Phenotypes 26
  • Earliest
    J:717 Elima K, et al., Specific hybridization probes for mouse alpha 2(IX) and alpha 1(X) collagen mRNAs. Biochim Biophys Acta. 1992 Feb 28;1130(1):78-80
  • Latest
    J:231474 Hung IH, et al., A combined series of Fgf9 and Fgf18 mutant alleles identifies unique and redundant roles in skeletal development. Dev Biol. 2016 Mar 1;411(1):72-84

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
06/22/2016
MGI 6.04
The Jackson Laboratory